UBC researchers identify genetic driver of early Huntington's disease onset

Researchers from the University of British Columbia (UBC) and the BC Children’s Hospital Research Institute have identified a genetic variant that may explain why some individuals with Huntington's disease develop symptoms 10 to 12 years earlier than others.

A study published in the journal Neuron suggests that this specific variant accelerates the disease by “driving runaway DNA changes” in vulnerable neurons. While the Huntington's mutation is present in every cell of the body, the damage is primarily concentrated in the brain's nerve cells.

According to the study, patients with this genetic variant experienced much larger expansions of the Huntington mutation in their neurons, with these expansions occurring approximately five times more frequently than in patients without the variant. Senior study author Dr. Michael Hayden noted that this provides evidence that the repeated expansion of the mutation is a key driver of the disease and a potential target for future treatments.