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Science 9 December 1988:
Vol. 242. no. 4884, pp. 1427 - 1430
DOI: 10.1126/science.3201231

Articles

Science, Vol 242, Issue 4884, 1427-1430
Copyright © 1988 by American Association for the Advancement of Science


articles

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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

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.


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