New Gene Associated With Amyotrophic Lateral Sclerosis Identified

ScienceDaily (Mar. 3, 2009) — A collaborative research effort spanning nearly a decade between researchers at Massachusetts General Hospital (MGH) and King’s College London (KCL) has identified a novel gene for inherited amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease). This is the fourth gene associated with familial forms of the devastating neurological disorder.

Two papers, published in the February 27 edition of Science, report mutations in FUS/TLS, a gene known to play a role in DNA repair and the regulation of gene expression. The mutations affect the behavior of the FUS/TLS protein within cells and lead to deposits of abnormal protein within motor neurons.

“We found a series of mutations in a gene that interacts with biological pathways already implicated in ALS and other neurological diseases, resulting in familial ALS of differing inheritance patterns and varying severity,” says Thomas Kwiatkowski, MD, PhD, of the MassGeneral Institute for Neurodegenerative Disease (MGH-MIND), lead author of the MGH report. 

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