• Human mutation · Mar 2002

    The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

    • Belén Bornstein, Jose Antonio Mas, Miguel Angel Fernández-Moreno, Yolanda Campos, Miguel Angel Martín, Pilar del Hoyo, Juan Carlos Rubio, Joaquín Arenas, and Rafael Garesse.
    • Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.
    • Hum. Mutat. 2002 Mar 1; 19 (3): 234-9.

    AbstractTransmitochondrial 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.Copyright 2002 Wiley-Liss, Inc.

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