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Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

Artikel i vetenskaplig tidskrift
Författare Gittan Kollberg
Ali-Reza Moslemi
Christopher Lindberg
Elisabeth Holme
Anders Oldfors
Publicerad i Journal of neuropathology and experimental neurology
Volym 64
Nummer/häfte 2
Sidor 123-8
ISSN 0022-3069
Publiceringsår 2005
Publicerad vid Institutionen för laboratoriemedicin , Avdelningen för patologi
Institutionen för klinisk neurovetenskap
Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin
Sidor 123-8
Språk en
Länkar www.ncbi.nlm.nih.gov/entrez/query.f...
Ämnesord Adult, Blotting, Western, Codon, Nonsense, DNA Mutational Analysis, DNA, Mitochondrial, genetics, Electron Transport Complex IV, genetics, Female, Humans, Immunohistochemistry, Mitochondrial Myopathies, genetics, Muscle, Skeletal, metabolism, pathology, Rhabdomyolysis, genetics
Ämneskategorier Medicin och Hälsovetenskap

Sammanfattning

Mitochondrial DNA (mtDNA) mutations associated with rhabdomyolysis are rare but have been described in sporadic cases with mutations in the cytochrome b and cytochrome c oxidase (COX) genes and in 3 cases with tRNALeu mutation. We report a novel heteroplasmic G6708A nonsense mutation in the mtDNA COI gene encoding COX subunit I in a 30-year-old woman with muscle weakness, pain, fatigue, and one episode of rhabdomyolysis. Histochemical examination of muscle biopsy specimens revealed reduced COX activity in the majority of the muscle fibers (approximately 90%) and frequent ragged red fibers. Biochemical analysis showed a marked and isolated COX deficiency. Analysis of DNA extracted from single fibers revealed higher levels of the mutation in COX-deficient fibers (> 95%) compared with COX-positive fibers (1%-80%). The mutation was not detected in a skin biopsy, cultured myoblasts, or blood leukocytes. Nor was it identified in blood leukocytes from the asymptomatic mother, indicating a de novo mutation that arose after germ layer differentiation. Western blot analysis and immunohistochemical staining revealed that reduced levels of COX subunit I were accompanied by reduced levels of other mtDNA encoded subunits, as well as nuclear DNA encoded subunit IV, supporting the concept that COX subunit I is essential for the assembly of complex IV in the respiratory chain.

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