TalkHuntington’s Disease: New Research May Uncover Cause
Mayo Clinic researchers have discovered a protein interaction that may explain how the deadly Huntington’s disease affects the brain.
The findings…show how the mutated Huntington’s protein interacts with another protein to cause dramatic accumulation of cholesterol in the brain. “Cholesterol is essential for promoting the connection network among brain cells and in maintaining their membrane integrity. Both the level of cholesterol and its delivery to the proper locations in the cell are essential for the survival of neurons,” explains Mayo Clinic molecular biologist Cynthia McMurrary, Ph.D.
“Our discovery that the mutant Huntington’s disease protein derails the cholesterol delivery system and causes cholesterol accumulation in neurons provides us with key results and solid clues to the mechanism of this disease,” says Dr. McMurray. “Fully understanding the mechanism of toxicity is the key to developing treatments.”
- Read more about this discovery at Science Daily News and from Pure Pedantry
- Learn more about the genetics behind Huntington’s disease in Hsien Lei’s Chromosome Parade
- Newsweek recently profiled a family who used PGD to avoid passing Huntington’s disease on to their children
Technorati Tags: huntington’s disease, research, cholesterol, protein, treatment
September 6th, 2007 at 7:46 am
Curious –
This message was posted December 11th of 2006.
Do you have any updates?
Have you been able to interrupt/disrupt the CAG sequence/repeat?
September 7th, 2007 at 10:07 am
As far as I know, researchers have yet to discover how to interrupt/disrupt the CAG repeats. Options for people with positive diagnoses include PGD (preimplantation genetic diagnosis) for couples who want to ensure their children are unaffected (as the Newsweek article cited above discussed); research into drug targets and, by extension, drug treatments.
In March 2007, the New York Times profiled a young woman with HD who has spoken honestly and eloquently about her experiences and her plans for the future. For anyone with HD or with loved ones with HD, I recommend reading her story.