A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy

• Published in: European journal of human genetics : EJHG Vol. 21; no. 5; pp. 571 - 573
• Main Authors: Roos, Sara, Darin, Niklas, Kollberg, Gittan, Andersson Grönlund, Marita, Tulinius, Mar, Holme, Elisabeth, Moslemi, Ali-Reza, Oldfors, Anders
• Format: Journal Article Magazine Article
• Language: English
• Published: England Nature Publishing Group 01.05.2013
• Subjects: Adolescent; Age; Anticodon - genetics; Anticodons; Ataxia; Base Pairing; Base Sequence; Biochemical analysis; Cataracts; Cell Respiration - physiology; Cytochrome-c oxidase; Cytochrome-c Oxidase Deficiency - genetics; Deoxyribonucleic acid; Disease; DNA; Enzymes; Epithelial cells; Epithelium; Fibroblasts; Genes; Genomes; Genomics; Hair; Histological Techniques; Humans; Male; Mitochondria; Mitochondrial DNA; Mitochondrial Encephalomyopathies - genetics; Mitochondrial Encephalomyopathies - pathology; Molecular Sequence Data; Muscle, Skeletal - pathology; Musculoskeletal system; Mutation; Mutation - genetics; Pediatrics; Pediatrik; Phenotype; Phosphorylation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Restriction fragment length polymorphism; RNA, Transfer, Arg - genetics; Roots; Sequence Analysis, DNA; Short Report; Sweden; tRNA Arg; tRNA Trp; Urine; Sweden

We report a mutation in the anticodon of the tRNA(Arg) gene (m.10437 G>A), resulting in an anticodon swap from GCU to ACU, which is the anticodon of tRNA(Trp), in a boy with mitochondrial encephalomyopathy. Enzyme histochemical analysis of muscle tissue and biochemical analysis of isolated muscle...