Publication Date:
1988-12-09
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wallace, D C -- Singh, G -- Lott, M T -- Hodge, J A -- Schurr, T G -- Lezza, A M -- Elsas, L J 2nd -- Nikoskelainen, E K -- NS21328/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 1988 Dec 9;242(4884):1427-30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3201231" target="_blank"〉PubMed〈/a〉
Keywords:
African Continental Ancestry Group
;
Animals
;
Arginine
;
Cytochrome Reductases/*genetics
;
DNA, Mitochondrial/*genetics
;
European Continental Ancestry Group
;
Female
;
*Genes
;
Georgia
;
Hereditary Sensory and Motor Neuropathy/*genetics
;
Histidine
;
Humans
;
Macromolecular Substances
;
Male
;
*Mutation
;
NADH Dehydrogenase/*genetics
;
Optic Atrophies, Hereditary/*genetics
;
Pedigree
;
Reference Values
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
