title: Mitochondrial encephalomyopathy with 15915 mutation: clinical report.
abstract: A 16-year-old boy with mitochondrial encephalomyopathy had seizures, short stature, muscle weakness, progressive hearing loss, mental retardation, and myoclonus. His cranial computed tomography showed progressive calcification in the basal ganglia and cerebral atrophy. Muscle biopsy revealed many ragged-red fibers with variable cytochrome c oxidase activity and some strongly succinate dehydrogenase-reactive blood vessels. Sequence analysis of the entire mitochondrial DNA revealed a novel point mutation in the tRNA-Thr gene at nucleotide pair 15915. Serum lactate levels were decreased by high-dose coenzyme Q10 (CoQ10) therapy. The spectral power density, a parameter of background activity on electroencephalography, was markedly improved after additional administration of idebenone. After initiation of combined CoQ10 and idebenone therapy, the clinical abnormalities did not progress for 16 months.
authors.affiliation: Division of Child Neurology; Institute of Neurological Sciences; Faculty of Medicine; Tottori University; Japan.
authors.forename: A
authors.initials: A
authors.lastname: Seki
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: Y
authors.initials: Y
authors.lastname: Maegaki
authors.forename: T
authors.initials: T
authors.lastname: Koeda
mesh_terms: D000293:Adolescent; D016227:Benzoquinones / Q000008:administration & dosage; D001921:Brain / Q000473:pathology; D003067:Coenzymes; D004272:DNA, Mitochondrial / Q000235:genetics*; D004569:Electroencephalography / Q000187:drug effects; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009460:Neurologic Examination / Q000187:drug effects; D017354:Point Mutation / Q000235:genetics*; D012363:RNA, Transfer, Thr / Q000235:genetics*; D017421:Sequence Analysis; D014451:Ubiquinone / Q000008:administration & dosage / Q000031:analogs & derivatives
chemical_list: D016227:Benzoquinones; D003067:Coenzymes; D004272:DNA, Mitochondrial; D012363:RNA, Transfer, Thr; D014451:Ubiquinone; C024989:coenzyme Q10; C036619:idebenone