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Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient. 1999

P Lertrit, and N Ruangvaravate, and Y Trongpanich, and A Imsumran, and C Mungkornkarn, and N Neungton
Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease, characterized by bilateral optic atrophy predominantly in healthy young males. This disorder has shown to be associated with DNA mutation in mitochondrial genome of the patients. We report here a young man who came to the hospital with subacute visual loss in one eye, followed by the other eye within two months. His echocardiogram was normal. A G-->A base substitution at nucleotide position 11,778 which changes a conserved arginine to histidine at amino acid position 340 of ND4, a protein subunit of respiratory chain enzyme complex I in oxidative phosphorylation system, was detected in his leucocyte mitochondrial genome.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013785 Thailand Formerly known as Siam, this is a Southeast Asian nation at the center of the Indochina peninsula. Bangkok is the capital city. Kingdom of Thailand,Siam
D015418 Optic Atrophies, Hereditary Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER). Hereditary Optic Atrophy,Optic Atrophy, Hereditary,Atrophies, Hereditary Optic,Atrophy, Hereditary Optic,Hereditary Optic Atrophies

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