Amyotrophic Lateral Sclerosis (ALS)
A.) ALS Overview
Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease affecting primarily motor neurons, leading to paralysis and death within 3-5 years. Since 2003, many new ALS genes have been identified that implicate RNA metabolism, autophagy, and the cytoskeleton in disease pathogenesis. We are studying these ALS genes and cellular processes using Drosophila and human iPS (induced pluripotent stem cell) models.
The most common genetic cause of ALS is a GGGGCC repeat expansion in the C9orf72 gene. Using Drosophila and iPS models, we have found that disruption of nuclear import is an early and fundamental event in the pathogenesis of ALS and other neurodegenerative diseases.
