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1: Science. 1988 Dec 9;242(4884):1427-30.Click here to read Links

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK.

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.

Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.

PMID: 3201231 [PubMed - indexed for MEDLINE]