Newly Identified Gene Variants that Modify the Onset of Huntington’s Disease Could Lead to New Therapeutics

Researchers from the Mass General Research Institute have used an innovative approach to pinpoint two locations on the human genome that influence the rate at which Huntington’s disease (HD), a debilitating neurodegenerative disorder, develops in those carrying the HD gene defect.

By studying the samples from more than 4,000 HD patients, researchers were able to identify two genetic variants in areas distinct from the mutated gene that causes the disease.

These variants were more common in HD patients who developed symptoms at atypical times—either earlier or later than expected.

The findings imply that these genetic differences can alter the timing of the onset of the disease, which in turn could help devise ways to start treatment or preventative measures before symptoms appear.

James Gusella, PhD, director of the Center for Human Genetic Research at Mass General, is corresponding author of the report.

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