March 21, 2018

Ice Bucket Challenge funds another UMass ALS breakthrough

A new ALS gene discovery further implicates the cytoskeleton, which gives genes their form, as a mechanism for the development of the disease, according to UMass Medical School Professor John Landers.

A collaborative of 250 researchers, co-led by University of Massachusetts Medical School Professor John Landers and funded through the ALS Ice Bucket Challenge, have identified a new gene associated with the development of ALS, according to a statement from The ALS Association, a national nonprofit.

The discovery of the gene, known as KIF5A, advances the understanding of what causes ALS and builds on past research targeting cytoskeletal defects a common factor in the development of the disease, according to a second article published by the UMMS press office.

Landers, a professor of neurology, said in the UMMS article identifying the cytoskeleton, which is a frame that gives a cell its shape, as a potential target for new drug development is an important development.

"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," Landers said.

ALS is a progressive neurodegenerative disease that affects neurons in the brain and the spinal cord. People with ALS slowly lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis, according to UMMS.

While 10 percent of ALS is familial in origin because of a genetic defect, the other 90 percent of ALS cases are considered sporadic, or without a family history.

The KIF5A discovery was funded by the ALS Association through ALS Ice Bucket Challenge donations, the organization said. The research was also led by Dr. Bryan Traynor, senior investigator in the Laboratory of Neurogenetics at the National Institute on Aging, within the National Institutes of Health.

UMMS announced a previous ALS gene discovery in July 2016.


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