Researchers at UMass Medical School Discover Gene Linked to Development of ALS - NECN
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Researchers at UMass Medical School Discover Gene Linked to Development of ALS

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    Researchers Identify New Gene Linked to ALS

    A research team at UMass Medical School in Worcester has pinpointed a gene they believe is connected to the development of ALS.

    (Published Wednesday, March 21, 2018)

    A research team in Massachusetts has made a big breakthrough in the fight against a deadly, debilitating disease, and said funding from a viral social media campaign was critical in the discovery.

    Researchers at the University of Massachusetts Medical School in Worcester say they have pinpointed a gene connected to the development of amyotrophic lateral sclerosis, also known as "Lou Gehrig's Disease." They say the discovery of the new gene, KIF5A, shows that cytoskeletal defects are a common factor in ALS.

    The team, led by Dr. John Landers of UMass Medical School and Dr. Bryan Traynor of the National Institute on Aging at the National Institutes of Health, says the cytoskeleton could be a new target for drug development.

    "Identifying common mechanisms leading to ALS is essential in developing therapeutics for the disease," Landers, a neurology professor, said in a statement. "Treatments that potentially stabilize or repair the cytoskeleton give us a target for developing drugs with the capability of treating both familial and sporadic ALS."

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    Researchers said the funding for the study was provided by the ALS Association's Ice Bucket Challenge, which has raised more than $200 million since 2014. Former Boston College baseball player Pete Frates, who was diagnosed with the illness in 2012, inspired the Ice Bucket Challenge.

    ALS patients slowly lose control of muscle movement. Many become completely paralyzed and die between two and five years of being diagnosed. But patients with a KIF5A mutation have been shown to live longer, surviving for an average of about 10 years after being diagnosed.

    "Mutations in KIF5A join a growing list of known cytoskeletal-related gene mutations and strengthens the evidence of a role for cytoskeletal defects in the pathogenesis of ALS," Landers said.

    Each year, more than 5,600 people are diagnosed with the illness, according to the ALS Association, which estimates that the disease kills one of every 50,000 people.

    One of the most famous patients, world-renowned physicist Stephen Hawking, was diagnosed in 1963. He passed away last week.

    The results of the study were published Wednesday in Neuron, a scientific journal.

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