![Finding the Cause of a Severe Neurological Disorder]()
The enzyme RNA polymerase III (Pol III) synthesizes RNA molecules involved in essential cellular processes including protein synthesis and protein secretion. Pathogenic mutations in multiple genes encoding subunits of Pol III result in a spectrum of inherited neurodegenerative diseases including a common form of leukodystrophy. The disease involves neurological deficits including developmental delays, a progressive decline in cognitive and motor function, and cerebellar atrophy.
Ian Willis, Ph.D., has received a five-year, $3.4 million National Institutes of Health grant to study how mutations in Pol III lead to the disease. He and his colleagues will use a mouse model of Pol III-related leukodystrophy that reflects features of the disease seen in patients. In addition to gaining insight into the molecular mechanisms underlying Pol III-related leukodystrophy, the researchers will test potential therapies for the disease.
Dr. Willis is professor of biochemistry and of systems & computational biology at Einstein. (1R01NS129951-01A1)
Posted on: Wednesday, October 11, 2023