Disease-causing repeats help human neurons function

Newswise — Over half of our genomes are made of repeating elements within DNA. In rare cases, these repeats can become unstable and grow in size. These repeat “expansions” cause neurodegenerative diseases such as ALS and dementia as well as learning disorders and autism in Fragile X syndrome.

Research to date has focused on how these expanded repeats cause disease, but little attention has been given to the repeats themselves and whether they might have normal functions in genes.

By focusing on the biology of healthy nerve cells, a Michigan Medicine team found that repeats in the gene that causes Fragile X Syndrome normally regulate how and when proteins are made in…