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.
Molecular Medicine, Department of Neurosciences, IRCCS-Ospedale Bambino Gesù, Rome, Italy.
R
R
Carrozzo
A
A
Tessa
M E
ME
Vázquez-Memije
F
F
Piemonte
C
C
Patrono
A
A
Malandrini
C
C
Dionisi-Vici
L
L
Vilarinho
M
M
Villanova
H
H
Schägger
A
A
Federico
E
E
Bertini
F M
FM
Santorelli
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