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Protective Gene Variant Identified for Lou Gehrig’s Disease

A gene variant that extends the survival time in amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, by as much as 50 percent has been identified by an international team of researchers. "This report is the first to describe genetic factors that determine rate of progression in ALS," said Dr. Robert Brown, one of the study leaders. The gene is KIFAP3 and researchers know that it is involved in a number of cellular processes, including the transport of essential molecules throughout the nerve cell. "The favorable gene variant decreases levels of a motor protein complex in nerves," said Dr. John Landers, also a leader of the study. "This complex transports substances through different parts of nerve cells. If we can understand the biological basis for the beneficial effect in ALS, it will potentially provide a target for the development of new ALS treatments.” Because survival with ALS is normally only three to five years, patients with the KIFAP3 gene variant experience a substantial improvement. In fact, the researchers suggested that impact of this genetic variant is comparable to the effect of the only drug (Riluzole) now approved for use in ALS in the United States. More importantly, this genetic variant may potentially point the way to future drug development efforts. This work is reported in PNAS. [Press release]