Scientists reveal genetic cause behind aggressive early onset of Huntington’s disease Patients often show symptoms about ten years earlier than usual. The new work pinpointed a genetic variant that makes it happen. Written byAllison Whitten, PhD

Scientists reveal genetic cause behind aggressive early onset of Huntington’s disease Patients often show symptoms about ten years earlier than usual. The new work pinpointed a genetic variant that makes it happen. Written byAllison Whitten, PhD https://www.drugdiscoverynews.com/scientists-reveal-genetic-cause-behind-aggressive-early-onset-of-huntington-s-disease-17532 Some patients with Huntington’s disease are unluckier than others. While the neurodegenerative disease is known to be caused by 36 or more uninterrupted CAG repeats in the HTT (huntingtin) gene, people with a specific genetic variant, known as the CAG and CCG loss-of-interruption (CAG-CCG LOI), have an early onset of the disease up to 12.5 years earlier. Researchers didn’t know why — until a new paper published in Neuron, led by Michael Hayden’s group at the University of British Columbia. “This work answers that question,” said Hayden in the press release. His team showed that patients with the CAG-CCG LOI variant had up to five times more expansions of the HTT gene specifically in their medium spiny neurons within the striatum.