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EHDN 2022 | Does loss of wildtype huntingtin function contribute to Huntington’s disease?

Huntington’s disease (HD) is primarily considered to be a toxic gain-of-function disorder. The expanded CAG repeat in the huntingtin (HTT) gene causes abnormal protein formation and aggregation, as well as the buildup of smaller toxic fragments formed by aberrant splicing. Michael Hayden, MB, ChB, PhD, FRCP, FRSC, The University of British Columbia, Vancouver, Canada, & Prilenia, CEO, highlights the possibility that a loss of normal function of HTT also contributes to disease, beyond the effects of the mutant protein. This theory is supported by preclinical research, including evidence showing increased susceptibility to neuronal injury in HD animal models, attributable to a loss of the wildtype protein. This interview took place during the European Huntington’s Disease Network 2022 Plenary Meeting.

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