A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
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.
Akagi
Motohiro
M
Department of Developmental Medicine (Pediatrics), Osaka University, Graduate School of Medical Science, 2-2 Yamadaoka, Suita, Osaka, Japan.
Inui
Koji
K
Tsukamoto
Hiroko
H
Sakai
Norio
N
Muramatsu
Takashi
T
Yamada
Minoru
M
Matsuzaki
Kouzi
K
Goto
Yu-ichi
Y
Nonaka
Ikuya
I
Okada
Shintaro
S
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
C412204:ATP synthase subunit 6; D025261:Mitochondrial Proton-Translocating ATPases