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Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I

Kollberg, Gittan ; Moslemi, Ali-Reza ; Lindberg, Christopher ; Holme, Elisabeth ; Oldfors, Anders

Journal of neuropathology and experimental neurology, 2005-02, Vol.64 (2), p.123-128 [Periódico revisado por pares]

Hagerstown, MD: American Association of Neuropathologists, Inc

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Título:
Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I
Autor: Kollberg, Gittan ; Moslemi, Ali-Reza ; Lindberg, Christopher ; Holme, Elisabeth ; Oldfors, Anders
Assuntos: Adult ; Biological and medical sciences ; Blotting ; Blotting, Western ; Codon ; Codon, Nonsense ; Diseases of striated muscles. Neuromuscular diseases ; DNA ; DNA Mutational Analysis ; DNA, Mitochondrial - genetics ; Electron Transport Complex IV ; Electron Transport Complex IV - genetics ; Female ; genetics ; Hematologic and hematopoietic diseases ; Humans ; Immunohistochemistry ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; MEDICAL AND HEALTH SCIENCES ; Medical sciences ; MEDICIN OCH HÄLSOVETENSKAP ; metabolism ; Mitochondrial ; Mitochondrial Myopathies ; Mitochondrial Myopathies - genetics ; Muscle ; Muscle, Skeletal - metabolism ; Muscle, Skeletal - pathology ; Neurology ; Nonsense ; pathology ; Rhabdomyolysis ; Rhabdomyolysis - genetics ; Skeletal ; Western
É parte de: Journal of neuropathology and experimental neurology, 2005-02, Vol.64 (2), p.123-128
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Descrição: 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 tRNA 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 (∼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.
Editor: Hagerstown, MD: American Association of Neuropathologists, Inc
Idioma: Inglês

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Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I

Kollberg, Gittan ; Moslemi, Ali-Reza ; Lindberg, Christopher ; Holme, Elisabeth ; Oldfors, Anders

Hagerstown, MD: American Association of Neuropathologists, Inc

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