Researchers confirm genetic mutation link to ALS symptoms

(Bethesda, MD – Insurance News 360) – A team of researchers has confirmed there is a new genetic mutation that is linked to amyotrophic lateral sclerosis (ALS). The international team shows that changes in the neuronal transport gene KIF5A are associated with ALS.

The gene in question is Kinesin family member 5A (KIF5A). It has been linked to two rare neurodegenerative disorders, and has been definitively connected to amyotrophic lateral sclerosis (ALS) by several of the world’s top ALS research labs. Mutations in this gene cause problems in transport of proteins along the axions that connect nerve cells of the brain and spine. This eventually leads to the neuromuscular symptoms of ALS.

Published in the March 21 issue of “Neuron,” the study was led by Bryan Traynor, M.D., Ph.D., of the Intramural Research Program of the National Institute on Aging (NIA) at the National Institutes of Health and John Landers, Ph.D., of the University of Massachusetts Medical School, Worcester, with key funding support from the NIA, the National Institute of Neurological Disorders and Stroke (NINDS) at NIH, and several public and private sector organizations.

There was a comprehensive collaborative effort to examine the data that pointed toward KIF5A as a suspect for ALS, also known as Lou Gehrig’s disease.  The team of researchers from NIH conducted a large-scale genome-wide association study, and a team at the University of Massachusetts looked for rare variants in the next generation sequence data.   There were more than 125,000 samples in the study.

“Axons extend from the brain to the bottom of the spine, forming some of the longest single cellular pathways in the body,” said Traynor. “KIF5A helps to move key proteins and organelles – specialized parts of cells — up and down that axonal transport system, controlling the engines for the nervous system’s long-range cargo trucks. This mutation disrupts that system, causing the symptoms we see with ALS.”

The project’s next steps include further study of the frequency and location of mutations ithin the gene, to determine what cargos are disrupted. ccording to Traynor, next steps for the project include further study of the frequency and location of mutations within KIF5A and determining what cargos are being disrupted. He and his team hope this will help reveal what aspect of axonal transport is essential to maintain the cell.

Source: National Institutes of Health.

Comments are closed.