Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

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 arginin...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1988-12, Vol.242 (4884), p.1427-1430
Main Authors: Wallace, Douglas C., Singh, Gurparkash, Lott, Marie T., Hodge, Judy A., Schurr, Theodore G., Angela M. S. Lezza, Elsas, Louis J., Nikoskelainen, Eeva K.
Format: Article
Language:English
Subjects:
Adenosine triphosphatases
African Continental Ancestry Group
Amino acids
Analysis
Animals
Arginine
Biochemistry
Biological and medical sciences
Blindness
Chemical bases
Cytochrome Reductases - genetics
DNA
DNA, Mitochondrial - genetics
European Continental Ancestry Group
Eyes & eyesight
Female
Genes
Genetic aspects
Genetic disorders
Genetic mutation
Genetics
Georgia
Hereditary Sensory and Motor Neuropathy - genetics
Histidine
Humans
Macromolecular Substances
Male
Medical research
Medical sciences
Mitochondrial DNA
Mutation
Mutation (Biology)
NADH Dehydrogenase - genetics
Nervous system diseases
Neurological disorders
Neurology
Nucleotides
Ophthalmology
Optic Atrophies, Hereditary - genetics
Optic nerve diseases
Pedigree
Polymerase chain reaction
Reference Values
Retinopathies
Tests
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Description
Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.3201231