Breakthrough Study Uncovers Key Trigger in Huntington’s Disease Progression

New research identifies a DNA expansion threshold that leads to brain cell death, offering potential pathways for treatment.

Scientists at MIT, Harvard, and McLean Hospital have discovered that a DNA mutation in the HTT gene becomes toxic only after expanding to 150 CAG repeats.
The mutation, which initially appears harmless, accumulates over decades in specific brain cells before triggering their rapid death.
This finding challenges previous approaches focused on reducing the HTT protein and suggests targeting DNA-repeat expansion as a promising therapeutic strategy.
The research provides a window for intervention, as the DNA expansion occurs slowly over time before reaching the critical threshold.
This discovery may also have implications for treating other DNA-repeat disorders, such as fragile X syndrome and Friedreich's ataxia.