Pathogenesis of FIG4 mutations and phosphoinositide deficiency in neurological disorders

Dr. Miriam Meisler
University of Michigan
Monday, October 6, 2014 - 4:00pm
Fitzgerald Building, Room #103
Invited Speaker Seminar
Abstract: 
Neurons as post-mitotic cells are susceptible to defects in protein turnover and lysosome function. Positional cloning of a spontaneous mouse mutant with degeneration of the CNS and PNS led us to characterize the endolysosomal signalling lipid PI(3,5)P2 and the effects of deficiency in the nervous system. FIG4 mutations in patients with Charcot-Marie-Tooth disease, Yunis-Varon Syndrome and polymicrogyria with epilepsy define an allele series with a spectrum of clinical severity. Mechanistic studies in conditional mouse mutants and cultured cells suggest potential therapeutic pathways for these debilitating neurological disorders.
Host: 
Dr. Lucy Osborne
Department of Molecular Genetics