The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.
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.
Bornstein
Belén
B
Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.
Mas
Jose Antonio
JA
Fernández-Moreno
Miguel Angel
MA
Campos
Yolanda
Y
Martín
Miguel Angel
MA
del Hoyo
Pilar
P
Rubio
Juan Carlos
JC
Arenas
Joaquín
J
Garesse
Rafael
R
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*
D004272:DNA, Mitochondrial; D006147:Guanine; D000225:Adenine