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.

• Authors: G Silvestri, T Mongini, F Odoardi, A Modoni, G deRosa, C Doriguzzi, L Palmucci, P Tonali, S Servidei
• Journal: Neurology (Neurology) Vol. 54 Issue 8 Pg. 1693-6 (Apr 25 2000) ISSN: 0028-3878 [Print] United States
• PMID: 10762520 (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)