Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

• Published in: Journal of the neurological sciences Vol. 192; no. 1; pp. 81 - 84
• Main Authors: Aguilera, Isabel, Garcı́a-Lozano, José-Raúl, Muñoz, Alfredo, Arenas, Joaquı́n, Campos, Yolanda, Chinchón, Isidoro, Roldán, Antonio-Núñez, Bautista, Juan
• Format: Journal Article
• Language: English
• Published: Shannon Elsevier B.V 15.11.2001; Elsevier Science
• Subjects: Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; CIO gene; Codon - genetics; Complex I deficiency; DNA Mutational Analysis; DNA, Mitochondrial - genetics; Electron Transport Complex I; Electron Transport Complex IV - genetics; Energy Metabolism - genetics; Errors of metabolism; Exons - genetics; Female; Glycogen - genetics; Glycogen - metabolism; Glycogen Phosphorylase, Muscle Form - deficiency; Glycogen Phosphorylase, Muscle Form - genetics; Glycogen Storage Disease Type V - genetics; Glycogen Storage Disease Type V - metabolism; Glycogen Storage Disease Type V - physiopathology; Humans; McArdle's disease; Medical sciences; Metabolic diseases; Middle Aged; Mitochondria; Mitochondria, Muscle - genetics; Mitochondria, Muscle - metabolism; Mitochondria, Muscle - pathology; Muscle Fibers, Skeletal - metabolism; Muscle Fibers, Skeletal - pathology; Muscle, Skeletal - metabolism; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; NADH, NADPH Oxidoreductases - deficiency; NADH, NADPH Oxidoreductases - genetics; Point Mutation - genetics; Mitochondria; CIO gene; McArdle's disease; Complex I deficiency; Human; Glycogenosis V Mac Ardle; Enzyme; Cytochrome-c oxidase; Metabolic diseases; Mitochondrial DNA; Subunit; Enzymopathy; Genetic determinism; Genetic disease; Case study; Gene; Point mutation; Adult; Female; Carbohydrate; Oxidoreductases
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/S0022-510X(01)00634-7

We studied a 57-year-old female patient with clinical and biochemical evidences of McArdle's disease. Her muscle biopsy also revealed signs of mitochondrial proliferation, scattered RRF, and a deficit in complex I of the respiratory chain. Molecular genetic analysis showed that the patient was heterozygous for the most common mutation at codon 49 in the myophosphorylase gene. Mitochondrial DNA analysis of muscle tissue revealed an additional G-to-A transition at nucleotide position 7444 in the cytochrome c oxidase subunit I (COI) gene.