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Huntington’s
disease (HD; OMIM)
is an adult onset, autosomal dominant neurodegenerative disease that is
clinically characterized by a triad of movement disorders (i.e., chorea
and bradykinesia), psychiatric symptoms, and cognitive deficits. In afflicted
patient, symptoms usually progress relentlessly till death in 15-20 years
after disease onset. HD affects about 1 in 10,000 people in US. Currently
there are about 30,000 HD patients and another 150,000 people are at risk.
HD
is caused by a CAG repeat expansion encoding a polyglutamine (polyQ) repeat
in huntingtin (htt), a ubiquitously expressed protein in the neurons as
well as non-neuronal tissues. The polyQ repeat, located in the N-terminus
of Huntingtin (Htt), is normally less than 36, but is expanded to more
than 40 in HD patients. Pathological hallmarks of HD include:
(1)
atrophy (or shrinkage) of brain restricted to cortex and striatum;
(2)
selective degeneration of the striatal medium spiny neurons, and to a
lesser extent, to cortical pyramidal neurons;
(3)
aggregation of mutant htt in the affected neurons (both in nucleus as
well as in neuronal processes). The cellular and molecular mechanisms
underlying the selective and progressive pathogenic process in HD remain
largely unclear. Currently there is no effective treatment or cure for
HD or other polyQ disorders.
Our laboratory is interested in studying the cellular and molecular mechanisms
underlying pathogenesis of Huntington’s Disease (HD; Link to HD).
We are also interested in developing therapeutic strategies for treatment
of HD. Current research projects in HD include:
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