UMASS’s scientists identify new genetic mutation that causes familial ALS

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Familial Amyotrophic Lateral Sclerosis (ALS/Lou Gehrig’s Disease) is a progressive, neurodegenerative disorder affecting motor neurons in the central nervous system (CNS). As motor neurons die, the brain’s ability to control the body’s muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and eventually respiratory failure. The cause of most cases of ALS is unknown. Approximately 10 percent of cases are familial.

A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS).

Mutations to the profilin (PFN1) gene, which is essential to the growth and development of nerve cell axons, is estimated to account for one to two percent of familial ALS cases. The finding, described in the online edition of Nature, points to defects in a neuron’s cytoskeleton structure as a potential common feature among many ALS genes.

Though investigators at UMass Medical School and elsewhere have identified several genes showing to cause inherited or familial ALS, almost 50 percent of these cases still have an unknown genetic cause.