The mutation in the huntingtin (HTT) gene, which causes the incurable, dominantly inherited Huntington’s disease, was identified decades ago, following one of the most closely watched disease gene quests in the early years of gene mapping. But exactly how this triplet repeat expansion mutation functions to cause the disease has eluded researchers—until now.
A team of researchers from the Broad Institute, Harvard Medical School, and McLean Hospital have identified at last how the mutation causes symptom development later in life, opening doors to therapeutic approaches for delaying or preventing development of the disease.
The study reveals that the mutation in the HTT gene is initially innocuous but gradually morphs into a toxic form that causes the death of specific brain cells.
Published in Cell,…