The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh syndrome (LS), and a maternal uncle had a spinocerebellar disorder. Biochemical studies disclosed a reduced rate of ATP synthesis in skin fibroblast cultures from the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS.
Carrozzo
R
R
Molecular Medicine, Department of Neurosciences, IRCCS-Ospedale Bambino Gesù, Rome, Italy.
Tessa
A
A
Vázquez-Memije
M E
ME
Piemonte
F
F
Patrono
C
C
Malandrini
A
A
Dionisi-Vici
C
C
Vilarinho
L
L
Villanova
M
M
Schägger
H
H
Federico
A
A
Bertini
E
E
Santorelli
F M
FM
D000255:Adenosine Triphosphate / Q000096:biosynthesis*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000209:etiology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate