HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

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

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 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
Topics
  • 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)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password: