Huntington disease, a genetic disorder that causes involuntary movements and psychiatric issues, varies in symptom onset among individuals. A recent study by scientists from UBC’s Centre for Molecular Medicine and Therapeutics and BC Children’s Hospital Research Institute delves into why some patients experience symptoms a decade or more earlier than others.
Researchers identified a specific genetic variant that accelerates the disease by causing excessive DNA changes in the brain’s vulnerable neurons. This discovery sheds light on the significant role of repeated mutation expansion in driving the development of Huntington disease, potentially offering a target for future treatments.
Published in the scientific journal Neuron, the study reveals that individuals with this genetic variant exhibit a faster disease onset due to larger expansions of the Huntington mutation in their neurons. This expansion occurs more frequently in patients with the variant compared to those without it.
Dr. Michael Hayden, the senior study author and a professor at UBC, emphasizes the importance of targeting repeat DNA expansion as a potential therapeutic strategy for Huntington disease. By suppressing this expansion, there is potential to delay disease progression and onset, providing new hope for improved treatment outcomes.
Understanding the underlying mechanisms of disease progression could lead to more effective interventions for Huntington’s and potentially other neurological disorders in the future.
