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- Title
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.
- Authors
Campos, Yolanda; García-Redondo, Alberto; Fernández-Moreno, Miguel A.; Martínez-Pardo, Mercedes; Goda, Guillermo; Rubio, Juan C.; Martín, Miguel A.; Del Hoyo, Pilar; Cabello, Ana; Bornstein, Belen; Garesse, Rafael; Arenas, Joaquín; Campos, Y; García-Redondo, A; Fernández-Moreno, M A; Martínez-Pardo, M; Goda, G; Rubio, J C; Martín, M A; del Hoyo, P
- Abstract
We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early-onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.
- Publication
Annals of Neurology, 2001, Vol 50, Issue 3, p409
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/ana.1141