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The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines
Author(s) -
Bornstein Belén,
Mas Jose Antonio,
FernándezMoreno Miguel Angel,
Campos Yolanda,
Martín Miguel Angel,
del Hoyo Pilar,
Rubio Juan Carlos,
Arenas Joaquín,
Garesse Rafael
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10050
Subject(s) - biology , mitochondrial dna , oxidative phosphorylation , mitochondrion , mutant , mutation , genetics , respiratory chain , microbiology and biotechnology , atp synthase , gene , biochemistry
Transmitochondrial cybrid cell lines homoplasmic for the A8296G mtDNA transition, a mutation associated with several mitochondrial diseases, have a normal oxidative phosphorylation function, as shown by oxygen consumption, lactate production, respiratory enzyme activities, and growth using galactose as the only source of energy. The synthesis of mitochondrial proteins is also similar in mutant and wild‐type cybrids. Our results suggest that the A8296G mutation is a polymorphism and reinforce the necessity of performing functional studies to assess the pathogenicity of mtDNA mutations. Hum Mutat 19:234–239, 2002. © 2002 Wiley‐Liss, Inc.