neurodegenerative diseases

Tufts researchers uncover possible source of genetic error behind a dozen debilitating diseases

MEDFORD/SOMERVILLE, Mass. (December 5, 2016)—Tufts University researchers have discovered a possible explanation for the occurrence of a genetic error that causes over a dozen neuromuscular and neurodegenerative disorders, including Huntington’s disease, myotonic dystrophy and forms of spinocerebellar ataxia.

The error occurs as copies of three-letter sequences of DNA—known as CAG and CTG triplets—expand and repeat themselves hundreds or even thousands of times, disrupting normal gene sequences.