Author Interviews, Neurological Disorders, Scripps / 30.10.2014
Study Identifies Potential Target In Huntington’s Disease Pathway
MedicalResearch.com Interview with:
Srinivasa Subramaniam, Ph.D., Assistant Professor
Department of Neuroscience
The Scripps Research Institute Jupiter, Florida 33458
Medical Research: What is the background for this study? What are the main findings?
Dr. Subramaniam: Huntington’s disease (HD) is a genetic disorder occurs due to a mutation in a protein called huntingtin (mHtt), which affects 5-10 people per 100000 populations worldwide. Our research revolves around the question— why mutant huntingtin despite its ubiquitous expression through out the body selectively affects brain regions such as striatum, a region that regulates voluntary movement. We now found that mHtt activates a protein kinase complex, mammalian target of rapamycin complex 1 (mTORC1), which is required for normal functions such as translation of genes into proteins and also organelle recycling. We found the mTORC1 activation is so robust and sustained in the striatum that lead to the severe motor disabilities and premature death of HD mice. Our study indicates a functional relationship between huntingtin and mTOR the developmentally important genes with implication in Huntington’s disease pathogenesis.
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