title: The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.
abstract: 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.
authors.affiliation: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.
authors.forename: Belén
authors.initials: B
authors.lastname: Bornstein
authors.forename: Jose Antonio
authors.initials: JA
authors.lastname: Mas
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Fernández-Moreno
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Campos
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Martín
authors.forename: Pilar
authors.initials: P
authors.lastname: del Hoyo
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Rubio
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.forename: Rafael
authors.initials: R
authors.lastname: Garesse
mesh_terms: D000225:Adenine; D002459:Cell Fusion; D002460:Cell Line; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D006147:Guanine; D006801:Humans; D006822:Hybrid Cells; D017243:MERRF Syndrome / Q000235:genetics; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000502:physiology*; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D006147:Guanine; D000225:Adenine