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

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 tRNATrp gene.
AuthorsG Silvestri, T Mongini, F Odoardi, A Modoni, G deRosa, C Doriguzzi, L Palmucci, P Tonali, S Servidei
JournalNeurology (Neurology) Vol. 54 Issue 8 Pg. 1693-6 (Apr 25 2000) ISSN: 0028-3878 [Print] UNITED STATES
PMID10762520 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Mitochondrial
  • RNA, Transfer, Trp
  • Adult
  • Biopsy
  • Cytochrome-c Oxidase Deficiency
  • DNA Mutational Analysis
  • DNA, Mitochondrial (genetics)
  • Dementia (etiology)
  • Disease Progression
  • Fatal Outcome
  • Female
  • Hearing Loss, Sensorineural (etiology)
  • Humans
  • Mitochondria, Muscle (enzymology, pathology)
  • Mitochondrial Encephalomyopathies (complications, diagnosis, genetics)
  • Muscle, Skeletal (enzymology, pathology)
  • Point Mutation (genetics)
  • RNA, Transfer, Trp (genetics)
  • Spinocerebellar Ataxias (etiology)

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