A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency

Gabriella Silvestri, Serenella Servidei, Anna Modoni, T. Mongini, F. Odoardi, A. Modoni, G. Derosa, C. Doriguzzi, L. Palmucci, P. Tonali

Risultato della ricerca: Contributo in rivistaArticolo in rivista

41 Citazioni (Scopus)

Abstract

The authors describe a novel pathogenic G5540A transition in the mitochondrial transfer RNA (tRNA)(Trp) gene of a sporadic encephalomyopathy characterized by spinocerebellar ataxia. Clinical features also included neurosensorial deafness, peripheral neuropathy, and dementia. Biochemistry revealed a severe reduction of cytochrome c oxidase (COX) activity. Single- fiber PCR demonstrated higher levels of mutant genomes in COX-negative ragged red fibers than in normal fibers. These findings confirm that COX is more susceptible than other respiratory chain complexes to mutations in the mitochondrial tRNA(Trp) gene.
Lingua originaleEnglish
pagine (da-a)1693-1696
Numero di pagine4
RivistaNeurology
Volume54
DOI
Stato di pubblicazionePubblicato - 2000

Keywords

  • Cytochrome c oxidase
  • Mitochondrial DNA
  • mitochondrial encephalomyopathy
  • tRNA(Trp)

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