title: Mitochondrial myopathy and familial thiamine deficiency.
abstract: We studied two siblings with a mitochondrial myopathy, familial thiamine deficiency, and an A3243G mutation of the mitochondrial DNA (mtDNA). The elder brother (patient 1, now 36 years old) developed myopathy and beriberi heart at 20 years of age. Thiamine therapy resolved the cardiac symptoms and hyperpyruvicemia and improved the myopathy. The younger brother presented aged 19 years with a myopathy (patient 2, now 35 years old). Thiamine deficiency was present in the siblings and parents, and ragged-red fibers (RRFs) were noted in muscle biopsies from the siblings. Analysis 17 years later demonstrated thiamine malabsorption and an A3243G mutation of the mtDNA in both siblings and their mother, progressive myopathy, and an increased number of RRFs and elevated serum CKMB activity in patient 1. Thiamine treatment decreased the serum concentrations of lactate and pyruvate in patient 2, but not patient 1. The role of thiamine in mitochondrial dysfunction caused by an electron transfer disorder in the setting of A3243G mtDNA mutation is discussed.
authors.affiliation: First Department of Internal Medicine, Kurume University School of Medicine, Kurume, Japan. y-sato@ktarn.or.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Sato
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: M
authors.initials: M
authors.lastname: Osame
authors.forename: E
authors.initials: E
authors.lastname: Naito
authors.forename: K
authors.initials: K
authors.lastname: Oizumi
mesh_terms: D000328:Adult; D001284:Atrophy; D004272:DNA, Mitochondrial / Q000235:genetics; D004562:Electrocardiography; D005260:Female; D006439:Hemodynamics / Q000502:physiology; D006801:Humans; D008931:Mitochondria, Muscle / Q000502:physiology; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology; D013831:Thiamine / Q000031:analogs & derivatives / Q000378:metabolism / Q000627:therapeutic use; D013832:Thiamine Deficiency / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D004272:DNA, Mitochondrial; D013831:Thiamine