Scientists have long been trying to understand how a genetic mutation linked to Huntington’s disease manifests later in life, causing devastating nerve cell breakdown and death. A new study published in the journal Cell has finally uncovered the answer.
The research found that the mutation is harmless for decades but grows quietly until it eventually crosses a threshold, producing toxic proteins that kill cells. The study analyzed brain tissue from 53 people with Huntington’s disease and 50 without it, discovering that DNA tracts with more than 40 repeats of the CAG sequence expand over time.
Once the repeats reach around 150, certain neurons begin to sickle and die, leading to problems with movement, thinking, and behavior. The study suggests that slowing or stopping the expansion of these DNA repeats may be a better way to target the disease, rather than just managing its symptoms with medications.
The findings are exciting news for researchers, who hope they can help develop new treatments to delay or prevent Huntington’s disease. The disease affects about 41,000 Americans and currently has no cure, but experimental drugs designed to lower levels of toxic protein have struggled in trials. With the new research, researchers believe that targeting the DNA repeats may be a more effective approach.
“This study addresses a lot of the issues that have plagued our field for a long time,” said Dr. Mark Mehler, director of the Institute for Brain Disorders and Neural Regeneration at Albert Einstein College of Medicine.
Source: https://www.ksl.com/article/51230613/finding-sheds-light-on-what-causes-huntingtons-disease-a-devastating-fatal-brain-disorder