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Genetic disease treatments and pharmacogenetics: From scientific discovery to medical delivery
Date:11/14/2008

alter response to therapeutic drugs (pharmacogenetics). He has recently analyzed data for genome-wide or large-scale association studies of celiac disease, coronary artery disease, type 1 diabetes, and response to warfarin.

INDUCTION OF PGC-1 ALPHA EXPRESSION IN HUNTINGTON'S DISEASE TRANSGENIC MICE RESCUES NEURONAL DYSFUNCTION AND NEURODEGENERATION

Neurodegenerative diseases pose a considerable burden to our aging population. Huntington's disease (HD) is an inherited neurological disorder that affects as many as 40,000 people in the U.S. alone. HD causes degeneration of the brain, which results in involuntary movement disorder, cognitive decline, and ultimately death. Studies of HD and other related neurodegenerative disorders, such as Parkinson's disease, have highlighted the importance of mitochondrial function and energy production in the maintenance of normal neural function. However, there is currently no known cure for this fatal disease.

Albert La Spada, M.D., Ph.D., FACMG, Associate Professor and Director of the Center for Neurogenetics and Neurotherapeutics at University of Washington, Seattle, and his research team have been instrumental in establishing a new paradigm for HD neurodegeneration by linking nuclear transcription interference with mitochondrial dysfunction at the level of the transcription co-activator PGC-1a an important factor that regulates mitochondria.

In their latest work, Dr. LaSpada and his research group sought to determine if PGC-1a can ameliorate any clinical symptoms of HD by performing genetic studies in a mouse model of HD. Their findings indicate that increased PGC-1a action does improve neurological defects in HD mice and results in reduced amounts of protein aggregates a key pathological feature of most neurodegenerative disorders.

Specifically, the current results indicate that PPARd (a peroxisome proliferator-activated receptor that is positively modulated by PGC1-a) inte
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Contact: Kristen Long
klong@ashg.org
240-281-2386
American Society of Human Genetics
Source:Eurekalert

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