WORCESTER, Mass. A genetic variant that substantially improves survival of individuals with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, has been indentified by a consortium of researchers led by John Landers, PhD, Associate Professor of Neurology and Robert Brown, MD, DPhil, Chair and Professor of Neurology at the University of Massachusetts Medical School. Discovery of the KIFAP3 gene variant is reported in the Proceedings of the National Academy of Sciences.
"This report is the first to describe genetic factors that determine rate of progression in ALS," said Brown. "The finding reflects a truly international collaboration in which physicians and scientists from nearly 20 teams in several countries worked together to use new methods in genetics to understand ALS."
ALS is a progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. As motor neurons die, the brain's ability to send signals to the body's muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and eventually death from respiratory failure. In 1993, a team of researchers led by Dr. Brown discovered the first gene linked to familial ALS, a protein anti-oxidant known as superoxide dismutase, or SOD1. Earlier this year, Dr. Brown and his colleagues discovered a mutation in the FUS/TLS gene which is estimated to account for 5 percent of inherited ALS cases. There are only four genes known, that when mutated, cause familial ALS. The KIFAP3 gene variant is the first to be linked with the rate of progression in ALS.
To isolate the KIFAP3 gene variant, a consortium of researchers from the U.S., Mexico, Israel and Europe examined more than 300,000 genetic variants in over 1,800 people with ALS and nearly 2,200 unaffected controls. The approach is based on the assumption that naturally occurring gene variations can influence both disease susceptibility and the way a disease ru
|Contact: James Fessenden|
University of Massachusetts Medical School