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.