New Study Uncovers Key Mechanism Behind Huntington’s Disease Progression

Researchers reveal how DNA-repeat expansions in neurons drive the onset and progression of Huntington's disease, offering new therapeutic possibilities.

The study identifies somatic DNA-repeat expansion in the huntingtin (HTT) gene as a key driver of neurodegeneration in Huntington's disease.
Researchers found that neurons accumulate CAG repeats over decades, with symptoms arising when repeats exceed a toxic threshold of 150.
The findings suggest that targeting DNA-repeat expansion could delay or prevent disease onset, offering a new therapeutic approach beyond current treatments.
The study utilized advanced single-cell RNA sequencing to analyze over 500,000 cells, revealing critical insights into the disease's progression at the cellular level.
The research has broader implications for other DNA-repeat disorders, such as fragile X syndrome and myotonic dystrophy, and highlights the importance of brain tissue donations for advancing scientific understanding.