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March 31, 2004
Huntington's Disease Movie
There's been some news coverage of a film festival where the films are delivered digitally instead of on celluloid. Buried in the article is a tidbit on a film called '50/50' that is about Huntington's Disease.
Don't look for it in your nearby theater just yet. It is still being produced and when it is released it is likely to be a 'limited release'/art house movie. Here's the details from the article:
"Hybrid" is a look at films that blend documentary and fiction techniques. As part of the emphasis on hybrid films, viewers will see 33 minutes of 50/50, a work-in-progress by Tom Fontana and Barry Levinson (Homicide: Life on the Streets), and Ted Bogosian (The Press Secretary). The subject is Huntington's disease, and it's not clear where fiction crosses over into real life.
"It's a social issue film with two actors in the lead roles," Buirski said. "They want it to be a surprise, but it's very provocative."
Posted by Dave at 06:32 PM | Comments (0) | TrackBack
March 30, 2004
Paxil Neuroprotective In Mice
Paxil, or paroxetine, has been shown to slow down Huntington's Disease in Mice.
Paxil is a SSRI (serotonin-reuptake inhibitor), which is a type of anti-depressant. This is another good reason for those at-risk and symptomatic with HHD to take Paxil.
It is entirely possible, if not probably, that other anti-depressants in the SSRI category will also have a similar benefit. But since not any one anti-depressant works for everybody, follow your doctor's advice and be sure to tell your health care professionals if you are having any problems. Here's the abstract:
Paroxetine retards disease onset and progression in Huntingtin mutant mice.
Duan W, Guo Z, Jiang H, Ladenheim B, Xu X, Cadet JL, Mattson MP.
Laboratory of Neurosciences, National Institute on Aging Intramural Research Program.
We report that administration of paroxetine, a widely prescribed antidepressant drug that acts by inhibiting reuptake of the neurotransmitter serotonin, suppresses the neurodegenerative process and increases the survival of huntingtin mutant mice, an animal model of Huntington's disease (HD). Paroxetine attenuated motor dysfunction and body weight loss and improved glucose metabolism in the HD mice. Paroxetine was beneficial when treatment was initiated before or after the onset of motor dysfunction, suggesting a potential for such antidepressant drugs in the treatment of presymptomatic and symptomatic HD patients.
PMID: 15048901
Posted by Dave at 04:59 PM | Comments (0) | TrackBack
March 29, 2004
Worries Hurt Pharmaceuticals
Mathew Holt points out a Barron's piece on the Pharmaceutical sector.
According to at least one analyst, pharmaceutical stocks have been dropping due due to fears that Kerry would institute price controls. This is bad news for the Huntington's community as we need as much investment into the pharmaceutical industry as possible. This could even put some of the younger pharmaceutical's out of business if they are unable to get second-round financing.
Kerry needs to nip this in the bud and announce that he will not institute price controls
Posted by Dave at 06:09 PM | Comments (0) | TrackBack
March 28, 2004
An Unexpected Gift
"The names of the Rev Ivy Ayris and the Rev Norman Gunn meant nothing to the Huntington's Disease Association until this month.
Then a cheque arrived for almost $400,000 from the sale of the Williamstown home owned by the pair, who died six months apart."
That is how the Herald Sun described this unexpected gift. The Huntington's Disease Association is Australia's leading HD organization.
"To receive such a generous gift is overwhelming for our small community," Mr Mims said.
Yes it is. Let's hope we hear more stories like this.
Posted by Dave at 02:12 PM | Comments (0) | TrackBack
March 27, 2004
Driving Toward a Cure
Win 2004 BMW 325 Ci Convertible or $25,000 Cash!
HDSA is having a fundraiser. Huntington's Disease research will be a winner and so can you.
The highlights from their website:
Limited to 2,500 Tickets! Remember, for every two tickets that you buy or sell for HDSA, you receive a third ticket FREE. Tickets are $100 each (three for $200).
Winners will be drawn at HDSA's National Convention on Saturday June 12, 2004 in St. Louis, MO. Tickets available here.
Posted by Dave at 08:08 PM | Comments (0) | TrackBack
March 26, 2004
Another Jake Dowell Article
The Albany Times Union has nice Huntington's article on Jake Dowell, the college hockey player at risk for HD. Click here for the earlier article on Jake and his family.
Every article like this lets a few more people know about Huntington's Disease.
Posted by Dave at 04:40 PM | Comments (0) | TrackBack
March 25, 2004
HDSA Legislative Alert
Genetic Information Nondiscrimination Act of 2003
On October 14, by a unanimous vote 95-0, the Senate passed the Genetic Information Non discrimination Act of 2003 (s.1053). The Act was passed in order to insure that individuals affected by a genetic disease would not be discriminated against in health insurance and employment. As was written in the Statement of Administration Policy, (s.1053) “would bar health insurers from denying coverage to a healthy individual or charging the person higher premiums based solely on a genetic predisposition to developing a disease in the future. The bill would also prohibit employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions.”
Although the bill received a unanimous vote in the Senate, (95-0 with 5 abstentions), it has yet to pass through the House and is currently held in Committee in the House Energy and Commerce Committee. While House Democrats overwhelmingly favor passage of the Genetic Information Non discrimination Act not many Republicans favor it.
Your help is needed now. Please take the time to contact your Congressional representative and urge them to support the Genetic Information Non discrimination Act, and make them aware of the impact their choice will have in the lives of so many people.
In order to find the names of the House representatives who support Genetic Non discrimination you can log on to www.house.gov. Under Legislative information click on ‘Find a bill or law’ icon. On the screen that appears type in the bill number, hr1910, and press enter. On the next screen click on the ‘Link to the Bill Summary and Status File’. Once you get to the page, scroll down and you will find a link ‘Cosponsors’, click on it. This list contains the names of all the representatives that have cosponsored the early bill for Genetic Non discrimination. If the name of your representative is not on it then please urge them to become a cosponsor of the new bipartisan bill s.1053. You may also thank those who have signed on to cosponsor the earlier bill for their support and efforts against genetic discrimination.
It is hard enough to live knowing you have a genetic disease, should we not try to make it easier to live with.
You have just received an HDSA BULLETIN. HDSA BULLETINS are swift way to communicate latest news in various areas that interest the extended HD community. As important news items are gathered, we aim to pass them on quickly to our leaders, committees, chapters, social workers and friends. Please feel free to forward these bulletins to other interested parties in their unedited form. To add or remove yourself from the HDSA BULLETIN mailing list, send an e-mail to hdsainfo@hdsa.org and make sure that the subject line reads “HDSA BULLETIN.” Be sure to include your name, e-mail address, and whether you want to be added, removed, or have a change of e-mail in the body of the message.
Kristine Ferrell
Marketing/Communications Coordinator
Huntington's Disease Society of America
158 West 29th Street, 7th Floor
New York, NY 1001-5300
(212) 242-1968, Ext 29
(212) 239-3430 Fax
www.hdsa.org
Posted by Dave at 09:55 PM | Comments (0) | TrackBack
March 23, 2004
Cyclosporin & CoQ10
Researchers are looking at a number of ways to inhibit the early cell death caused by Huntington's Disease.
Researchers from the University of British Columbia choose to study certain potential treatments in a mouse model. What they found out was that these treatments do appear to "dramatically diminish" early cell death.
What were these treatments? Cyclosporin A, bongkrekic acid, and coenzyme Q10 (CoQ10).
I know several people who are taking Cyclosporin and CoQ10 at the urging of their doctors. That may turn out to be very good advice.
Mol Cell Neurosci. 2004 Mar;25(3):469-79.
Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease.
Zeron MM, Fernandes HB, Krebs C, Shehadeh J, Wellington CL, Leavitt BR, Baimbridge KG, Hayden MR, Raymond LA.
Kinsmen Laboratory of Neurological Research, Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z3.
Evidence suggests N-methyl-d-aspartate receptor (NMDAR) activation is involved in the degeneration of striatal medium-sized spiny neurons (MSNs) in Huntington's disease (HD). We tested the hypothesis that enhanced NMDAR-mediated excitotoxicity is mediated by the mitochondrial-associated apoptotic pathway in cultured MSNs from YAC transgenic mice expressing full-length huntingtin (htt) with a polyglutamine (polyQ) expansion of 46 or 72 (YAC46 or YAC72). NMDAR-mediated Ca(2+) transients and mitochondrial membrane depolarization were significantly increased in YAC compared to wild-type mice MSNs. Inhibitors of the mitochondrial permeability transition (mPT), cyclosporin A and bongkrekic acid, and coenzyme Q10 (an anti-oxidant involved in bioenergetic metabolism) dramatically diminished NMDA-induced cell death and eliminated genotypic differences. In YAC46 MSNs, NMDA stimulated significantly higher activation of caspase-3 and caspase-9 but not caspase-8, and NMDA-induced caspase-3 and -9 activation was markedly attenuated by cyclosporin A. Agents that improve mitochondrial function or inhibit the permeability transition may eliminate increased caspase activation and cell death associated with enhanced NMDAR activity in HD.
PMID: 15033175
Posted by Dave at 06:55 PM | Comments (0) | TrackBack
March 22, 2004
Kenyon's Worms
The San Francisco Chronicle had an interesting article this past weekend that can be found on their website.
They discuss Kenyon's Worms, a genetically altered version of a common worm that lives much longer than it's unaltered kin. And they believe it has implications for the treatment of Huntington's Disease along with slowing down the aging process.
This is MANY years from being a viable therapy, but the article touches on a number of interesting genetic topics with mentions of HD. Check it out.
Posted by Dave at 08:56 PM | Comments (0) | TrackBack
March 21, 2004
Animal Rights & Human Deaths
The animal "rights" organizations are still at it. Doing their best to make sure more humans die in the name of animal "rights".
After forcing the cancellation of a needed research facility that was going to do work on Huntington's Disease and others, activists are now targeting a research lab being built at Oxford.
You can read the latest from the London Telegraph here.
Posted by Dave at 10:10 PM | Comments (2) | TrackBack
March 20, 2004
Hockey & Huntington's
The Eau Claire Leader-Telegram has a nice article on Jake Dowell, a 19-year-old who is one of the best college hockey players in the country. Jake's dad, John, has Huntington's Disease and has been symptomatic for four years. They didn't know they had it in the family.
Here's an excerpt:
"Jake remains the same upbeat person who left Eau Claire Memorial High School three years ago after achieving all-state recognition his sophomore year to participate in USA Hockey's National Team Development Program in Ann Arbor, Mich.
"Judging by the way he's living his life, playing and practicing, I think he's handling it about as well as a 19-year-old man can," said Badgers coach Mike Eaves, a former UW-Eau Claire coach. "If anything, it's given him focus. He's kind of playing hockey for his dad."
At first glance, John, known to friends as "John-Boy" since being stuck with the seemingly misapplied inappropriate nickname as a UW-Eau Claire football player, still seems to fit his tough-guy image.
But underneath muscles developed by years of weight training is a man fighting a losing battle against his own body. "It's really hard," said John, "not being able to do the things you used to do without even thinking about it."
Check out the article here.
Posted by Dave at 08:02 PM | Comments (0) | TrackBack
March 19, 2004
When Is The Age Of Onset
If you have the HD gene, this study could make your life better or it can make it worse.
When some find out the 'average' age of onset for their CAG count they decide, at least on some level, that their life is over.
Whatever anyone's station in life, HD or not, if you decide your life is over...it is. When that happens that's a shame because "it ain't over until it's over".
Before reading this chart here are some important facts:
1. Onset for some will be younger. Sad, but true. but...
2. Life is NOT over at onset. Life expectancy is up to 25 years after onset.
3. Onset can come much later. Note the column for the oldest (max) age of onset for those in the study.
4. Exercise, creatine, fish oil, and taking your doctor's advice could add many healthy years. There is evidence that this is the case.
5. Several promising treatments are on the horizon, though still a few years away. You may want to consider saving for your retirement.
The higher and lower CAG counts are not included here because of the accuracy due to the small sample sizes.
CAG |
Ave Age Onset |
Max |
40 |
58 |
84 |
41 |
57 |
83 |
42 |
51 |
80 |
43 |
47 |
73 |
44 |
43 |
66 |
45 |
42 |
69 |
46 |
39 |
63 |
47 |
35 |
58 |
48 |
33 |
50 |
49 |
33 |
52 |
50 |
31 |
46 |
51 |
29 |
43 |
52 |
29 |
52 |
Posted by Dave at 07:33 PM | Comments (0) | TrackBack
March 18, 2004
Starting Your Own Support Group
Do you wish there was a Huntington's Disease support group in your area?
Have you thought about starting one but didn't know how? Here is a link with step-by-step instructions on how to get one started.
You don't need to be affiliated with any organization and you don't need any experience. You will not only help yourself, but the group will help others for years to come.
Give it a try. What have you got to lose?
Posted by Dave at 09:49 PM | Comments (0) | TrackBack
March 17, 2004
Nerve Cell Proteins
Just because Huntington's Disease is a "rare" disease doesn't mean the issues in treating it are "rare". Spinal injuries and HD may be seem to be two very different medical problems, but in both cases the solution may lie in preventing cell death (neural, nerve).
Researchers looking at ways to treat spinal injuries have identified ways to prevent nerve cell death. They found two proteins that do just that - HSC70 and HSP70. (HSP70 has been studied in HD, with 'modest' effect.)
Here's what this
Posted by Dave at 06:49 PM | Comments (0) | TrackBack
March 16, 2004
NaPro Update
NaPro BioTherapeutics has a very promising treatment for Huntington's Disease that it is currently developing. The goal of the treatment is to significantly reduce the protein 'clumps' caused by HD. They've shown effectiveness in the lab, but this potential treatment is still years from being a commercial product.
So what is happening with NaPro?
They sold one of their product lines to raise cash for development. They currently have $50 million in the bank which, at the current burn rate (how they lose money), could buy them two years. (Here's a link to their press releases.)
For the long haul NaPro will need to either develop new revenues, find more investment, or sell more assets. If their HD product (and others) continue to show promise the money will be there.
Let's hope they succeed!
Posted by Dave at 08:05 PM | Comments (0) | TrackBack
March 15, 2004
Scholarship Fund
There is a wonderful fund that has been setup to help those attend the HDSA convention that, otherwise would not be able to make it.
The fund is now called the Lou Wilkinson Memorial HD Scholarship Fund "to honor her for all of the love and support she put into not only the HDSF but everyone associated with HD."
If you have the means...please contribute. If you have the need...apply for a scholarship. Now the details, as posted by Susie on the Hunt-Dis list:
The Hunt-Dis Convention Scholarship Fund was established by the members of Hunt-Dis in 1999 to help those members who, due to financial hardships, are unable to attend a Huntington's Disease Society of America's
(HDSA) national convention.
The experience of attending a HDSA National Convention is invaluable to any family living with Huntington's Disease. It is at a national convention where they can hear, firsthand, the latest in research directly from all of the wonderful scientists and researchers who attend the convention.
The sessions are designed to help everyone from the caregiver, to those at-risk, to the person with Huntington's Disease and to our young adults and children living with HD, who have it or are at-risk for it.
Lastly, the comradeship and lasting friendships that everyone will make at a national convention is so heart-warming it just cannot be experienced to the same degree on line. It is, truly, a very rewarding experience for anyone who is able to attend.
For complete details, visit http://clix.to/HDSFwebsite.
A little more history. This is the 4th year of the HDSF (recently renamed the Lou Wilkinson HD Scholarship Fund). Last Year the HDSF committee decided to reach out to others in the HD family who may need help, and the scholarship was opened up to include the other online support groups...HD Caregivers, National Youth Alliance, JHD Caregivers, and Huntington's At Risk group, (before last year a person had to be a member of Hunt-Dis to apply). Our very first winner was for the convention in San Diego, but unfortunately, the winner was unable to attend at the last minute, and the funds were rolled over to the following year.
Each year the number of scholarships (full or partial) we have been able to award has increased. San Diego---1 full scholarship, Columbus---1 full scholarship, and 2 partials, and helped a 3rd person get a full scholarship from her local chapter, Houston---1 full scholarship and 3 partials (which actually ended up being almost full scholarships).
The Scholarship is available online http://endoflifecare.tripod.com/huntdisscholarshipfund/id29.html The deadline for submitting an application is Mon. March 15.
Completed applications should be sent to Jean Miller: jemiller at tampabay dot rr dot com
The money used to award scholarships is received through donations and/or purchase of items available on the HDSF Website. www.clix.to/hdsfwebsite
The HDSF committee are all volunteers who are dedicated to helping as many people as possible be able to attend the National Convention.
At this time the fund has about $400 less than it did last year. So far there are 5 applications for scholarships that I am aware of. The committee members work every angle conceivable to try and award every applicant at lest a partial scholarship so that we do not have to turn anyone down.
Two years ago, committee members imitated a PIE IN THE FACE *contest*. Committee members agreed that one or more would be willing to *take* a pie in the face for receiving the most votes. How do we receive votes? Through donations and purchase of items on the website. For each dollar donated or spent you get one vote. All you do is say which committee member you want to receive your votes. You can *vote* for just one committee member or divide your votes up between committee members. For the last 2 years it seems that Dave Hodgson, Jean Miller and I have been the most *popular*. And so far this year, yours truly holds the lead once again. But hey...I LOVE pies:):)
If you would like to help this very worthwhile cause, you can make a donation by sending a check made out to HDSF to: HDSF c/o Dave Hodgson 1526 Applegate Drive Naperville, Il 60565
I would encourage everyone to take a look at the HDSF website to see what is available there. Remember...every little bit helps!!!
Posted by Dave at 07:16 PM | Comments (0) | TrackBack
March 14, 2004
It's Alive! - HDDW
This is the best news I've seen in the HD community all year!
HD Drug Works (HDDW) is now up and running. If you are not familiar with Huntington's Disease Drug Works, it is an organization started last year by Dr. Lavonne Goodman and others to bring therapies to HD patients sooner.
They are now starting trials in San Diego, Austin, and Seattle. But they aren't stopping there, they hope to start up trials in more cities and you can help them by going here and getting more details.
The best part of HDDW is they are bringing therapies to HD patients that are very promising - ursodiol, cystamine, trehalose, and others.
In a very short period of time, HDDW has put together an impressive Scientific Advisory Board that includes scientists that have published studies on these potential therapies.
Go visit their beautiful website today to find out how to help, how to participate in a trial, who they are, and what they are trying to accomplish.
We need to support this organization! One day, it just might save the lives of the ones you love.
Posted by Dave at 09:35 AM | Comments (0) | TrackBack
March 13, 2004
Health Savings Accounts
If you don't know about them, you should.
DB's Medical Rants has an article on the new Health Savings Accounts which were created under the Medicare bill passed last year. These are savings accounts where every dollar you contribute is tax deductable (up to the limits). The accounts are to be used for health care expenses. Anything you don't spend accumulates tax-free. After age 59 1/2, you can take money out for non-medical uses and just pay the income tax on it.
That's a great deal! Vist Medrants for more details.
Posted by Dave at 11:00 AM | Comments (0) | TrackBack
March 12, 2004
Translation: HD & Gambling
Another study translation...
J Int Neuropsychol Soc. 2004 Mar;10(2):239-45.
Reduced autonomic responsiveness to gambling task losses in Huntington's disease.
Campbell MC, Stout JC, Finn PR.
Department of Psychology, Indiana University, Bloomington, Indiana.
We examined the possible role of autonomic activity in Huntington's disease (HD) during a risky decision making task.
We wanted to find out if those with Huntington's Disease react differently when making risky decisions.
Skin conductance responses (SCRs) of 15 HD participants and 16 healthy controls were measured while they performed a computerized version of the Simulated Gambling Task (SGT).
We put 15 people with HD and 16 without HD through tests involving gambling and we measured if risk made both sweat about the same.
The results replicated our previous finding of a performance decrement in HD, and showed that HD was associated with an altered pattern of SCRs during the risky decision task.
We've done similar testing before with similar results.
Specifically, the healthy controls produced increased SCRs following selections from the disadvantageous decks and following losing selections.
We "stacked the deck" and made things rough for them to see how they'd sweat.
In contrast, the SCRs of the HD group did not differentiate between wins and losses.
When we did the same thing to those with HD, they reacted the same whether they won or loss.
These findings indicate a reduced impact of loss on decision-making processes under risky conditions in HD.
Those with HD are not as likely to be "Risk Adverse". They are less likely to be affected by bad outcomes, so their decisions will be different. This could lead to taking bigger chances (risks), more often.
PMID: 15012844
Posted by Dave at 07:01 PM | Comments (0) | TrackBack
March 11, 2004
Spammed By A Blogger
I suppose it was inevitable, I got spammed by a blogger.
Some jerk with a blog posted an irrelevant comment that was only meant to drive traffic to his anti-Bush website.
Now this is quite a change as I'm usually deleting 'comments' that advertise 'bedroom' medications or the latest gambling site. Like this one, they all get deleted immediately.
So I checked this punk's website, he's made three posts on his blog in the last month. All the posts were "cut & paste" collections of Internet flotsam that is popular with the MoveOn crowd, but is largely false or inaccurate. None of it had anything to do with Huntington's Disease or health care.
This is going to be an ugly political season, folks. It's only just begun.
Posted by Dave at 10:19 PM | Comments (0) | TrackBack
March 10, 2004
Help Out This New Study
What are the benefits & costs of getting tested for the HD gene?
Some researchers at the University of Chicago would like to find out and they need your help. Read the following letter to see if you qualify for the study. They do need people who have not been tested, those who have tested either negative or positive.
Here's the letter (posted on the Hunt-Dis email list):
Dear Family,
I am writing you to let you know of an important study that is going to begin at the University of Chicago regarding Huntington's disease and the costs and gains of being tested for the HD gene. Many times we have discussed the advantages and disadvantages of testing as it relates to our future. Most of the comments were subjective and based upon our own individual feelings. The study that is about to begin as a Doctoral dissertation will be the first time someone has attempted to objectively give the HD community a quantitative assessment of the gains and risks to being tested. It is reasoned that if one knows, objectively, what lies ahead after being tested, with either result (gene positive or negative) one can make a more informed decision about one's economic future. For example, fertility decisions, educational decisions, savings behavior, and other long-term decisions could be affected.
Therefore, identifying and measuring the economic gains and costs associated with genetic testing will enable those at risk to make a much better informed genetic testing decision, and will enable everyone, regardless of current risk level, to better plan for the future. Through the use of a simple survey, it's felt that one will be able to identify and measure these gains and costs. Another contribution to the HD community (and economic science) is the ability to supply better objective data for public policy decisions. If policy makers know the actual facts, they should be able to devise better policies that could have a positive affect on the HD community. Policies regarding health insurance, medical confidentiality, insurance discrimination and social security are all related to the research subject.
To qualify for the research, you need to belong to one of the following
populations:
(1) Huntington's disease gene carriers (with no symptoms present)
(2) At risk (family history, but did not take the genetic test)
(3) Not a carrier (confirmed by a genetic test) but was at risk in the
past.
This study will be done by questionnaire and will be kept in the strictest confidence. No names will be used in the survey results. Confidentiality obligations are strictly enforced at the University of Chicago, and this study is approved by the Department of Biological Sciences Institutional Review Board, so it adheres to the same rules and precautions as medical studies conducted there. Complete description of the confidentiality policy of the study will be made available and explained to you before any data is collected, and a consent form will be used. Please contact me if you have any questions regarding the confidentiality policy that you would like to discuss before contacting the investigator.
It's my opinion, having lived with HD since 1986 through my pHD wife, Paula, that this is an important study. I have assisted a bit in designing the questions that will be asked. However, outside of announcing the study, I will have no more input into it, nor will I have any access to the study itself. I hope you feel confident in me to know that although the study won't find a treatment or cure, it will help those who have agonized over whether or not to test.
If you have any questions at all about this study or wish to participate, please contact the investigator, Mr. Avraham Stoler, at HD_Research@yahoo.com The questionnaire takes about an hour to fill and is completely voluntary. If you wish to contact me about the study before contacting the investigator, please feel free to write me privately.
Peace and love
Dave Hodgson"
Some more details:
In order to participate in this research, please send an email to hd_research@yahoo.com, and all the relevant information will be sent to you. This is also the place to ask any research related questions regarding your privacy, research goals, or anything else, before making a decision. Sending an email does not oblige you in any way to participate in this research, and even if you agree to participate, you may withdraw at any time. No information whatsoever is collected about you until a consent form is signed, and you may send an anonymous email requesting further details (just create a new yahoo email for this purpose without supplying real personal information). hd_research@yahoo.com is only used by the main investigator, only for this purpose, and no one else has access to it. please do not send any attachments to this address as it is limited in space.
This research is done in collaboration with Dr. Kathleen Shannon, M.D. Associate Professor, Rush University, Rush-Presbyterian St. Lukes Medical Center.
Posted by Dave at 06:42 PM | Comments (0) | TrackBack
March 09, 2004
Amarin Shuffle
Just once I'd like to hear truly good news from this company.
They hold a drug in Phase III trials that has the potential to slow the progression of Huntington's Disease. But they've been botching it for a year and half.
Here's the latest "good" news: They've lost the bulk of their management team. The president & CEO, the Executive Vice President, and the Vice President of Sales & Marketing ALL QUIT effective IMMEDIATELY.
Take your fish oil and don't count on LAX-101 to become available anytime soon, especially as long as Amarin controls it.
Posted by Dave at 07:34 PM | Comments (0) | TrackBack
March 08, 2004
Kick HD On Route 66
One of the gems of the HD community is doing it again.
She's raising funds and awareness for HD by bicycling from Albuquerque to St. Louis for the annual HDSA convention. This will take her over 3 weeks and all donations will be matched dollar for dollar. Here's the details:
From Marie:
A "heart"y greeting to each of you dear folks,
It hardly seems possible that the Convention in St. Louis is just two months away. The list is as it usually is on the weekend, a bit slow, so I thought I'd jump in and announce information about this year's long distance bicycle ride to raise awareness and funds for HD.
This year's ride will be called "Kick HD on Route 66." The "kick" part comes from Bobby Troup's jazzy hit "Get Your Kicks on Route 66." Charlotte and I have planned to ride from Albuquerque NM to St. Louis MO, then do a "participation ride" across Missouri on the KATY Trail.
We will drive from Grand Junction to Albuquerque, which is about 400 miles. The ride is scheduled to begin on Sunday, May 16. Basically, the ride will parallel the I-40, from Albuquerque to Amarillo to Oklahoma City. From Oklahoma City to Tulsa we'll parallel the Turner Turnpike (I-44). From Tulsa we'll parallel the Will Rogers Turnpike (I-44). ride through a 13 mile section of Kansas, to Joplin MO then parallel the I-44 into St. Louis. That will take almost 3 weeks.
Then we will drive West to Clinton MO to ride the full 225 mile KATY Trail, the longest developed and most popular rails-to-trail route in the US. We will ride 4 days on the KATY Trail, hopefully with folks who want to join us for an hour, a day, the whole length of the trail ... we're flexible. Last day of the ride will be on June 10 from St. Charles to St. Louis MO, arriving at the Adam's mark Hotel on Thursday afternoon, June 10.
I will post the proposed itinerary in a separate E-mail. Feel free to forward it to friends who live along the route. We are starting to look for accommodations in homes and churches as usual.
Again this year, there will be a Commemorative Ride T-shirt. The front of the T-shirt has been designed by a professional artist, Jerry McClanahan, who specializes in Route 66. You can see some of his artwork at www.mockturtlepress.com/jerry/ Sponsorships will again be taken for the names of loved ones to be printed on the T-shirt. There will be a separate posting on this. Many have participated before, and this year, like last year, there's an added BONUS for "early birds."
If anyone needs more information that this right now, please E-mail me privately and I will be happy to respond to your questions, comments, etc.
This will be a tremendous opportunity to impact Route 66, in 5 states, raising awareness as we pass our bright yellow-green ride brochures along the way.
Those who have donated to past "Bike For The Cure" rides should be receiving a ride brochure in about a week - 10 days.
Looking forward to what this year's ride will bring. We hope to raise more than we did last year. All funds will be matched dollar for dollar by HDSA's Generation 2000: Fulfilling the Promise fund.
and more...
Again this year, the opportunity is being given to honor the memory of a loved one (there will be a column for "In loving memory of ..."), or have your name on the ride t-shirt. Individual sponsorships are $60 and $125 for businesses. Deadline for inclusion is May 1.
The front of the T-shirt has been designed by Jerry McClanahan, a professional artist who specializes in Route 66. You can see some of his artwork at www.mockturtlepress.com/jerry/ He has a cartoon character, "Rootie" who will appear on the T-shirt, riding his bike from Albuquerque NM to St. Louis MO. BONUS: WITH ANY SPONSORSHIP POSTMARKED BY APRIL 15, A "FREE" T-SHIRT WILL BE INCLUDED. SPECIFY SIZE. MAKE CHECK PAYABLE TO HDSA. This is to spur everyone to get involved early, and help us better estimate the number of T-shirts that will be screen printed.
Send check to:
Marie Nemec
Kick HD on Route 66
3087 - A 1/2 Road
Grand Junction CO 81503-9678
Additional T-shirts cost $12 in person along the "Kick HD on Route 66" and along the KATY Trail route (adult sizes through XL; $15 XXL and XXXL Add $3/shirt for shipping. Specify size and quantity. Make check payable to "Marie Nemec."
I will post this message every few days, knowing that new folks subscribe constantly, and sometimes folks are on "nomail" and may miss it. Note the deadline of an April 15 deadline for the "free" T-shirt with sponsorship, and May 1 for remaining sponsorships to get a name on the ride T-shirt.
My thoughts and prayers are with all Phds, those at-risk, caregivers, family members, medical professionals and those like myself with no family history of HD, but impacted by friendship and concern for those affected.
Help us raise funds for research that even in 2004 that a cure might be found, making this the last generation to suffer with HD. Help slay the dragon and "Kick HD on Route 66!"
With love and anticipation of a great ride on "The Main Street of America!"
Marie Nemec
Posted by Dave at 07:31 PM | Comments (0) | TrackBack
Kick HD On Route 66 Itinerary
Here is Marie's itinerary for her 3+ week bicycle ride to raise money and Awareness for Huntington's Disease:
Especially for anyone living along Route 66, between Albuquerque and St. Louis, but for general information, here is the proposed itinerary for "Kick HD on Route 66." This is also for anything considering riding the KATY Trail with us.
Day 1 - May 16 - Albuquerque - Cline's Corner NM
Day 2 - May 17 - Cline's Corner - Santa Rosa NM
Day 3 - May 18 - Santa Rosa - Tucumcari NM
Day 4 - May 19 - Tucumcari NM - Vega TX
Day 5 - May 20 - Vega - Amarillo TX
Day 6 - May 21 - Amarillo - Groom TX
Day 7 - May 22 - Groom - Shamrock TX
Day 8 - May 23 - Shamrock TX - Clinton OK
Day 9 - May 24 - Clinton OK - El Reno OK
Day 10 - May 25 - El Reno - Oklahoma City OK
Day 11 - May 26 - Rest Day Oklahoma City
Day 12 - May 27 - Oklahoma City - Stroud OK
Day 13 - May 28 - Stroud - Tulsa OK
Day 14 - May 29 - Tulsa - Vinita OK
Day 15 - May 30 - Vinita OK through KS to Joplin MO
Day 16 - May 31 - Joplin - Springfield MO
Day 17 - June 1 - Springfield - Waynesville MO
Day 18 - June 2 - Waynesville - Cuba MO
Day 19 - June 3 - Cuba - Eureka MO
Day 20 - June 4 - Eureka - St. Louis MO
Day 21 - June 5 - 1/2 day Rest in St. Louis, then drive to Clinton MO for start of the KATY Trail portion of the ride
Day 22 - June 6 - Clinton - Booneville/New Franklin MO
Day 23 - June 7 - Booneville/New Franklin - Jefferson City MO
Day 24 - June 8 - Jefferson City - Hermann MO
Day 25 - June 9 - Hermann - St. Charles MO
Day 26 - June 10 - St. Charles - St. Louis MO
Guest riders are encouraged, especially along the KATY Trail. Bicycles can be rented in many locations along the trail. Check out
www.mostateparks.com/katytrail Study the above itinerary and E-mail me
if you plan to join us for a day or more! In 2002 there were SIX of us who rode in from Hebron OH to the Convention Hotel. Maybe we can top that this year! Hope so!
Take care.
In partnership,
Marie Nemec
Posted by Dave at 06:34 PM | Comments (0) | TrackBack
March 07, 2004
HDAC's New Look
If you haven't been by, go check out HDAC's (Huntington's Disease Advocacy Center) new look.
You can check them out at http://www.hdac.org/.
Posted by Dave at 06:45 PM | Comments (0) | TrackBack
March 06, 2004
Great Research Keeps Coming
The good news about Huntington's Disease always seems to come in spurts. This past couple of weeks has been one of those times.
Complimenting nicely other research that has been announced. Researchers have found peptides (combination of amino acids) that seem to prevent long strands of glutamine (the infamous lengthy sequentce of CAG's inherit in the bad huntingtin protein) from becoming longer.
This is important as the brain seems to be able to adapt to the strands with the 40-70 CAG's, but neural cells start to fail when the strands grow to much larger lengths in the brain (as the person ages).
This finding gives researchers another path to pursue in effectively treating Huntington's Disease. Here's the study abstract:
Inhibition of polyglutamine aggregate cytotoxicity by a structure-based elongation inhibitor.
Thakur AK, Yang W, Wetzel R.
Huntington's disease and other expanded CAG repeat diseases are associated with the expression of proteins containing polyglutamine (polyGln) tracts expanded beyond a pathological repeat length threshold of ~38. Aggregation of these expanded polyGln proteins may trigger disease by recruiting and sequestering other polyGln-containing proteins in the cell, depriving the cellular environment of critical protein activities. We describe here proline-containing polyGln peptide sequences that are effective inhibitors of the ability of polyGln aggregates to be elongated by recruiting additional polyGln monomers. These peptides are also effective inhibitors of polyGln aggregate toxicity in a cell culture model based on delivery of preassembled polyGln aggregates into the cell nucleus. These results are not only consistent with a role for polyGln aggregates in the disease mechanisms of expanded CAG repeat disorders, but also directly implicate the elongation phase of aggregate growth in the toxicity mechanism, supporting the recruitment-sequestration model for polyGln toxicity. These results may be related to the ability of the glutamine/proline-rich protein PQE-1 to protect C. elegans against polyglutamine toxicity. Inhibition of aggregate elongation is a therapeutic strategy that, based on our results, may be effective even in neurons already compromised by polyGln aggregates.
PMID: 15001566
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March 05, 2004
Live Better, Live Longer
Scientists have frequently noted that labratory animals with HD live longer and healthier when there is a richer environment.
Now they've found one of the reason this might be...It's due to greatly increased BDNF levels in the brain. BDNF is that brain chemical that seems tied to healthier and longer-living brain cells. HD Lighthouse has wisely been touting the benefits of increasing BDNF to the Huntington's Disease community for years.
Exercise, take classes, take on new hobbies, try new things...all of these might help you live a longer life. Even if they don't it'll certainly be richer!
J Neurosci. 2004 Mar 3;24(9):2270-6.
Environmental enrichment rescues protein deficits in a mouse model of Huntington's disease, indicating a possible disease mechanism.
Spires TL, Grote HE, Varshney NK, Cordery PM, van Dellen A, Blakemore C, Hannan AJ.
University Laboratory of Physiology, University of Oxford, Oxford OX1 3PT, United Kingdom. tara.spires@physiol.ox.ac.uk
Huntington's disease (HD) is a devastating neurodegenerative disorder caused by a CAG repeat expansion encoding an extended polyglutamine tract in the huntingtin protein. Transgenic mice expressing a human huntingtin transgene containing an expanded CAG repeat (R6/1 model) develop a neurodegenerative disorder closely resembling human HD. Previous work demonstrated that environmental enrichment delays the onset of motor symptoms in this mouse model. We confirmed that at 5 months of age, enrichment ameliorates motor symptoms (assessed using the rotarod test) and prevents loss of body weight induced by the HD transgene. We further examined molecular consequences of enrichment by determining changes in protein levels in the neostriatum, hippocampus, and anterior cortex using quantitative Western blot analysis. Non-enriched HD mice have severe reductions in BDNF in the hippocampus and striatum at 5 months, which are entirely rescued by enrichment. BDNF levels are unaltered by HD in the anterior cortex, suggesting that enrichment might prevent HD-induced impairment of anterograde transport of this neurotrophin to the striatum. NGF is unaffected by HD. Non-enriched HD mice also exhibit deficits in dopamine and cAMP-regulated phosphoprotein (32 kDa) in striatum and anterior cortex. Environmental enrichment rescues the cortical but not the striatal deficit at 5 months. These results suggest that environmental enrichment benefits animals at early stages of the disease by rescuing protein deficits, possibly through rescuing transcription or protein transport problems.
PMID: 14999077
Posted by Dave at 08:43 PM | Comments (0) | TrackBack
March 04, 2004
An Important Article
So why does Huntington's Disease wait decades before it strikes?
After all, the gene is there at birth.
Recently researchers found that the CAG repeat in the brain, caused by the bad Huntington's gene, actually varies and gets quite large in the brain as they age, especially in the area's of the brain that are hit hardest by the disease.
There is now a very interesting theory, backed up by research, that might explain why that is. And knowing this can help in the search for an effective treatment for Huntington's Disease.
This is what the researchers had to say (in readable English even):
"In their current study, Mirkin and Krasilnikova found that when replication stalled, the triplet repeat multiplied, creating longer and longer threads of DNA.
"It's like a car getting stuck in a pothole. You keep spinning the wheels to get out of the pothole, but the more the wheels spin, the more mileage you put on the car, the more repeating units you add to your DNA," Mirkin said.
This theory fits very well with what we know about Huntington's Disease. If true, it goes a long way toward explaining why the disease strikes later in life and accelerates.
From the University of Illinois at Chicago press release:
Faulty DNA replication linked to neurological diseases
Lengthy sequences of DNA -- with their component triplet of nucleotides repeated hundreds, even thousands of times -- are known to be abnormal, causing rare but devastating neurological diseases. But how does the DNA get this way? How does it go haywire, multiplying out of control?
In the current issue of Molecular and Cellular Biology, Sergei Mirkin, professor of biochemistry and molecular genetics at the University of Illinois at Chicago College of Medicine, explains the mechanism, providing an important clue to the origin of these diseases.
Mirkin and Maria Krasilnikova, a research assistant professor in his lab, studied the sequence of a simple repeat of three nucleotides responsible for Friedreich's ataxia, the most commonly inherited form of ataxias, which causes progressive damage to the nervous system, resulting in symptoms ranging from muscle weakness and speech problems to heart disease.
The DNA triplet that repeats in Friedreich's ataxia is a guanine and two adenines (GAA) on one DNA strand and the complementary two thymines and a cytosine (TTC) on the opposite strand.
Earlier research had shown that up to 40 repeats of this nucleotide triplet do not cause any symptoms. The DNA is inherited as is, an odd but harmless pattern passed down from one generation to the next.
The problems begin when the repeats exceed 40.
"For Friedreich's ataxia and other neurological diseases, when the number of repeats exceeds 40, the sequence becomes unstable. That means that as the sequence is passed from one generation to the next, it gets longer. The longer it gets, the more likely it will get still longer. And the longer it gets, the worse the disease," Mirkin said. "Basically, even if you are more or less okay, there is a probability that your kids will be sick and a still higher probability that your grandkids will be even sicker."
To study how and why the inherited sequence expands so rapidly, the scientists watched the replication of different lengths of the triplet repeat sequence, using a simple unicellular organism, yeast, as a convenient model. While yeast is far more primitive than humans, its mechanism of DNA replication is remarkably similar.
The researchers found that replication of normal-size repeats proceeded without a hitch.
With larger-length sequences, however, the replication machinery got stuck and replication stalled. According to Mirkin, this temporary stoppage is probably caused by the formation of an unusual three-stranded DNA structure. He first discovered such odd DNA structures during his post-doctoral studies back in 1987, though at the time their significance was unclear.
"I was really delighted to finally find that they have a biological role," Mirkin said.
In their current study, Mirkin and Krasilnikova found that when replication stalled, the triplet repeat multiplied, creating longer and longer threads of DNA.
"It's like a car getting stuck in a pothole. You keep spinning the wheels to get out of the pothole, but the more the wheels spin, the more mileage you put on the car, the more repeating units you add to your DNA," Mirkin said.
The researchers also found that the aberrant lengthening of the sequence was more likely if replication began in one direction rather than the other, starting from the TTC strand rather than the GAA strand.
Mirkin and Krasilnikova believe their results apply to many other neurological diseases linked to lengthy repeats, including myotonic dystrophy, fragile X mental retardation and Huntington's disease.
"Different genes and different parts of those different genes are involved in these diseases. But there is one common feature: when the number of repetitive units is small, under 40, they are harmless. Over that threshold, the repeats multiply, expanding with each replication and causing rare, but very serious neurological disorders that worsen as the length of the repeats grows," Mirkin said.
"Individuals can be carriers of relatively long stretches of nucleotide repeats, with no apparent clinical consequences. But then some as yet unknown event triggers the addition of an extra triplet or two, and the threshold is crossed," Mirkin said. "Once replication stalls, there is no way back."
Mirkin hypothesizes that the triggering event might be a switch in orientation, "but the million dollar question is what causes that switch."
###
The study was funded by the National Institute of General Medical Sciences, one of the National Institutes of Health.
For more information about the UIC College of Medicine, visit www.uic.edu.
Posted by Dave at 06:29 PM | Comments (0) | TrackBack
March 03, 2004
Venzuelan Study Results
This is a BIG and important study.
And again we have Nancy Wexler and the whole gang of researchers (50+) studying the families with Huntington's Disease in Lake Maracaibo, Venezuela. Once more, invaluable information is gathered from the exaustive work by these dedicate researchers.
By studying over 18,000 people with Huntington's Disease spread over 10 generations researchers were able to help explain the variability in the age of onset for individuals with the same CAG count. Here's what they found:
"By using a variance-components approach with all available familial relationships, the additive genetic heritability of this residual age of onset trait is 38%. A model, including shared sibling environmental effects, estimated the components of additive genetic (0.37), shared environment (0.22), and nonshared environment (0.41) variances, confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental."
And what does that mean?
Well, individuals with the same CAG count can experience an age of onset that is many years apart. 40% of this variability is attributed to other genes and 60% is attributed to environmental factors.
This is proof that the age of onset can be delayed or start sooner due to factors that might be controlled. If you are at risk at Huntington's Disease, do yourself a favor and buy yourself extra time by following the research and learning what seems to be helping others. At this point it looks like exercise, proper nutrition, a modified lifestyle, and appropriate dietary supplementation could gain a person years of additional good health. It appears it could also slow the progression once the disease becomes apparent.
This might be enough time to be around when the coming cure becomes available. There is hope, don't loose it!
Here's the study abstract:
Proc Natl Acad Sci U S A. 2004 Mar 1
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.
Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayan J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B.
aColumbia University, 1051 Riverside Drive, New York, NY 10032; (b)Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom; (c)Indiana University, 975 West Walnut Street, Indianapolis, IN 46202; (d)Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129; (e)Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139; (f)Universidad del Zulia, AP 1151, Maracaibo, Venezuela; (g)Mattel Children's Hospital at University of California, Los Angeles, CA 90095; (h)Hospital Virgen del Camino, Irunlarrea, 4, 31008 Pamplona, Spain; (i)University of Texas, 1515 Holcombe Boulevard, Houston, TX 77030; (k)University of South Florida, 12901 Bruce B. Downs Boulevard, Tampa, FL 33612; (l)University of Rochester, 1351 Mt. Hope Avenue, Rochester, NY 14620; (m)Miami Children's Hospital, 3100 SW 62nd Avenue, Miami, FL 33155; (n)North Shore University Hospital, 444 Community Drive, Manhasset, NY 11030; (o)University of Southern California, 835 West 37th Street, Los Angeles, CA 90089; (p)Mt. Sinai Medical Center, 4300 Alton Road, Miami Beach, FL 33140; (q)Health and Human Services Agency, 4588 Market Street, San Diego, CA 92102; (r)New York University, 550 1st Avenue, New York, NY 10016; (s)National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892; (t)University of California, 2121 Gillespie, Irvine, CA 92697; (u)University of Alabama, Birmingham, AL 35294; (v)Thomas Jefferson University, 233 South 10th Street, Philadelphia, PA 19107; (w)University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242; (x)City University of New York, 365 5th Avenue, New York, NY 10016; (y)Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, OR 97201; (z)Albany Medical College, 47 New Scotland Avenue, Albany, NY 12208.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important factor in determining age of onset of HD, although substantial variability remains after controlling for repeat length. The Venezuelan HD kindreds encompass 18,149 individuals spanning 10 generations, 15,409 of whom are living. Of the 4,384 immortalized lymphocyte lines collected, 3,989 DNAs were genotyped for their HD alleles, representing a subset of the population at greatest genetic risk. There are 938 heterozygotes, 80 people with variably penetrant alleles, and 18 homozygotes. Analysis of the 83 kindreds that comprise the Venezuelan HD kindreds demonstrates that residual variability in age of onset has both genetic and environmental components. We created a residual age of onset phenotype from a regression analysis of the log of age of onset on repeat length. Familial correlations (correlation +/- SE) were estimated for sibling (0.40 +/- 0.09), parent-offspring (0.10 +/- 0.11), avuncular (0.07 +/- 0.11), and cousin (0.15 +/- 0.10) pairs, suggesting a familial origin for the residual variance in onset. By using a variance-components approach with all available familial relationships, the additive genetic heritability of this residual age of onset trait is 38%. A model, including shared sibling environmental effects, estimated the components of additive genetic (0.37), shared environment (0.22), and nonshared environment (0.41) variances, confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental.
PMID: 14993615
Posted by Dave at 06:54 PM | Comments (0) | TrackBack
March 02, 2004
Edwards Is Out
Word is that Edwards will drop out of the race tomorrow. This leaves Kerry, Kucinich, and Sharpton.
In other words...Edwards will be facing Bush this fall.
From a Huntington's Disease standpoint, Edwards is not the best Democratic candidate. But it is what we have to work with. Let's hope the debate this year will focus on those topics that mean the most to our community: Mental health parity, research friendly policies, and improved Medicare/Medicaid benefits.
Posted by Dave at 07:07 PM | Comments (1) | TrackBack
March 01, 2004
Carol Carr Released
Carol Carr, the woman who killed her two sons with HD, was released on parole from prison this morning after serving a third of her sentence.
From a news account:
"According to news media reports, parole board members placed a condition on Carr's parole prohibiting her from residing with her remaining son.
If he should become ill with Huntington's Disease, Carr will be prohibited from serving as his primary caregiver. The board also mandated that Carr must receive mental-health counseling during her period of supervision."
Posted by Dave at 10:33 AM | Comments (5) | TrackBack