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A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
Noer, A S; Sudoyo, H; Lertrit, P; Thyagarajan, D; Utthanaphol, P; Kapsa, R; Byrne, E; Marzuki, S.
Afiliação
  • Noer AS; Department of Biochemistry, Monash University, Clayton, Victoria, Australia.
Am J Hum Genet ; 49(4): 715-22, 1991 Oct.
Article em En | MEDLINE | ID: mdl-1910259
Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, has been sequenced to determine the underlying molecular defect(s). An A-to-G substitution of nt 8344 in the tRNA(Lys) gene, a substitution suggested to be associated with MERRF encephalomyopathy, was detected in these patients. Abnormal patterns of mitochondrial translation products were observed in the skeletal muscle of patients, consistent with the expected consequential defect in protein synthesis. The genealogical studies of the three patients, as well as mtDNA from one published MERRF patient and from nine other normal and disease controls, revealed that the tRNA(Lys) mutations in the MERRF patients have arisen independently. These observations provided evidence that the base substitution is a causal mutation for MERRF.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA de Transferência de Lisina / Epilepsias Mioclônicas / Doenças Musculares / Mutação Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 1991 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA de Transferência de Lisina / Epilepsias Mioclônicas / Doenças Musculares / Mutação Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 1991 Tipo de documento: Article