Science. 1988 Dec 9;242(4884):1427-30.

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.

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

Abstract

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]

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