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A mutation that alters the shape of DNA makes cells more vulnerable to stress and death and contributes to the development of a genetic form of amyotrophic lateral sclerosis (ALS), according to a study funded by the National Institutes of Health’s National Institute of Neurological Disorders and Stroke.
Previously, researchers linked a mutation in a noncoding region of the C9ORF72 gene to the development of ALS and frontotemporal dementia. Normally human C9ORF72 has anywhere from 2 to 25 GGGGGCC repeats, with most falling between 2 and 8 repeats, according to the authors. But the mutation associated with ALS and frontotemporal dementia causes tens to thousands of the repeats. These unusual repeats are the most common genetic cause of these 2 disorders, which suggests that the disorders are related.
Kuehn BM. ALS Linked to 3-D Changes in DNA. JAMA. 2014;311(16):1603. doi:10.1001/jama.2014.3840