Posted on 07/13/2012 6:42:31 PM PDT by neverdem
In a paper published in the July 11 online issue of Science Translational Medicine, researchers at the University of California, San Diego School of Medicine have identified two key regulatory proteins critical to clearing away misfolded proteins that accumulate and cause the progressive, deadly neurodegeneration of Huntington's disease (HD).
The findings explain a fundamental aspect of how HD wreaks havoc within cells and provides "clear, therapeutic opportunities," said principal investigator Albert R. La Spada, MD, PhD, professor of cellular and molecular medicine, chief of the Division of Genetics in the Department of Pediatrics and associate director of the Institute for Genomic Medicine at UC San Diego.
"We think the implications are significant," said La Spada. "It's a lead we can vigorously pursue, not just for Huntington's disease, but also for similar neurodegenerative conditions like Parkinson's disease and maybe even Alzheimer's disease."
In HD, an inherited mutation in the huntingtin (htt) gene results in misfolded htt proteins accumulating in certain central nervous system cells, leading to progressive deterioration of involuntary movement control, cognitive decline and psychological problems. More than 30,000 Americans have HD. There are no effective treatments currently to either cure the disease or slow its progression.
La Spada and colleagues focused on a protein called PGC-1alpha, which helps regulate the creation and operation of mitochondria, the tiny organelles that generate the fuel required for every cell to function.
"It's all about energy," La Spada said. "Neurons have a constant, high demand for it. They're always on the edge for maintaining adequate levels of energy production. PGC-1alpha regulates the function of transcription factors that promote the creation of mitochondria and allow them to run at full capacity."
Previous studies by La Spada and others discovered that the mutant form of the htt gene interfered with normal levels and functioning of...
(Excerpt) Read more at sciencedaily.com ...
Maybe this can translate to clinincal benefit more quickly than usual sans adverse effects. Good luck! Prayers sent!
Ping!
I'm sorry to hear that. I hope more progress is made in treating this disease in your lifetime. It runs in my family as well. My grandfather had it, and I had an aunt and a cousin with it. My mother didn't get it, so I'm safe. She does have Alzheimer's though, and I have wondered if the two are somehow related.
We have a number of distant cousins with the HD problem ~ but we don't. They are descendants of one of the two young women who came up to Indiana from Venezuela a century and a half ago.
Remember the way they used genealogical information to track and trace on HD to demonstrate that it was genetic in origin? That information is sort of available on the net ~ in several genealogies ~ but all the lines to/with HD are not on it. Handy for the rest of us ~
I had read that HD can occur every other generation.
Where did you read that? The HD gene is dominant. This means that if you have it, you have it, if you don’t you don’t. If you have the gene, you WILL get HD. If you don’t, you won’t.
Glad to hear your not getting it. I am on a study with univercity of chalottsville va. called the crestie study they have a brand new one out this week abouut the protiens.
i am using a pill that is to
help people with Alzhimers
Called protandim which recently got full approval by scientist that it helped many people even after they have stopped talking it is bring
ing them back!
Glad to hear your not getting it. I am on a study with univercity of chalottsville va. called the crestie study they have a brand new one out this week abouut the protiens.
i am using a pill that is to
help people with Alzhimers
Called protandim which recently got full approval by scientist that it helped many people even after they have stopped talking it is bring
ing them back!
read on a website that alhizmers is mostly swedish genictics.
Thanks so much for your prayers.
blessings to your and yours
Again, they won't show symptoms of the disease unless your mate also passed along an HD gene.
And so on down the line.
Two ways to stop this gene ~ the ethical way which is don't have kids! The unethical way which is to go to an in vitro operator who will test fertilized eggs and toss any with the HD gene.
When the genetic discovery was made many people had already married (or engaged in other pair bonding arrangements) and they had kids so they stopped having kids.
interesting that it can now be treated!
I wish! Let’s see the clinical trials.
I’m glad you’re in a study. I happen to live very near Charlottesville and also happen to work for a Clinical Research Organization or CRO. We carry out studies like these. I hope this one does wonders!
I just looked up protandim because I wasn’t familiar with it. I have to ask, who is carrying out this study? This doesn’t look like a real “legit” medicine to me.
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