UBC research may explain why some with Huntington’s develop symptoms earlier
People with Huntington disease carry the genetic mutation from birth, but why do some people develop symptoms much earlier than others?
Scientists at the University of British Columbia's Centre for Molecular Medicine and Therapeutics and BC Children's Hospital Research Institute discovered a potential explanation for why some individuals with Huntington's disease experience symptoms earlier than others. The study, published in the scientific journal Neuron, reveals that a specific genetic variant may accelerate the onset of the disease by accelerating DNA changes in the brain's most vulnerable neurons.
Dr. Michael Hayden, senior study author and professor at UBC, explained that patients with this genetic variant experience a much faster onset of the disease, but the reason behind it remained unclear until now. The study shows that people with the genetic variant have significantly larger expansions of the Huntington mutation in their neurons, occurring about five times more frequently than in patients without the variant.
The findings suggest that the study results could help explain why Huntington's is primarily a brain disease, despite the mutation being present in every cell of the body. The study authors believe that this understanding could potentially improve Huntington's disease treatment by providing strong evidence that expanding the mutation is a key factor in disease progression.
Dr. Hayden emphasized that suppressing this expansion could delay the onset or progression of the disease.
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