title: A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
abstract: A T-to-G transition at nucleotide 9176 (T9176G) in the mitochondrial adenosine triphosphate 6 gene (MTATP6) was detected in two siblings with Leigh syndrome. Heteroplasmy was observed in the mother's leukocytes. The T9176G mutation changes a highly conserved leucine residue to an arginine in subunit 6 of ATPase and is maternally inherited like mutations in the other mitochondrial genes. Another mutation in the same codon (T9176C) has been previously reported in Leigh syndrome. This gives strong support to the relevance of MTATP6 dysfunction in Leigh syndrome and the importance of leucine at that position.
authors.affiliation: Department of Developmental Medicine (Pediatrics), Osaka University, Graduate School of Medical Science, 2-2 Yamadaoka, Suita, Osaka, Japan.
authors.forename: Motohiro
authors.initials: M
authors.lastname: Akagi
authors.forename: Koji
authors.initials: K
authors.lastname: Inui
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Takashi
authors.initials: T
authors.lastname: Muramatsu
authors.forename: Minoru
authors.initials: M
authors.lastname: Yamada
authors.forename: Kouzi
authors.initials: K
authors.lastname: Matsuzaki
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Shintaro
authors.initials: S
authors.lastname: Okada
mesh_terms: D002648:Child; D002675:Child, Preschool; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
chemical_list: C412204:ATP synthase subunit 6; D025261:Mitochondrial Proton-Translocating ATPases