Disruption of gene used to transport proteins leads to ALS James
Clemens found that a gene - that when mutated leads to a genetic
version of amyotrophic lateral sclerosis - is critical for cell
signaling in neurons. Credit: Purdue Agricultural Communication
photo/Tom Campbell (Medical Xpress)—A Purdue University
biochemist has determined the function of a gene that when
mutated leads to a genetic variation of amyotrophic lateral
sclerosis, or Lou Gehrig's disease. James Clemens, an assistant
professor of biochemistry, found that a gene called VAPB is
responsible for transporting certain proteins to their proper
places along neurons. When the gene is mutated or deleted, these
proteins are unable to make it to locations in neurons where
their function is critically required. ALS causes neurons to
die, slowly eliminating voluntary muscle control and eventually
causing death in about five out of 100,000 people worldwide,
according to the National Institutes of Health. About 90 percent
of the cases are considered