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.

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

MONGINI, Tiziana Enrica;PALMUCCI, Laura Maria;
2000

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.
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SILVESTRI G; MONGINI T; ODOARDI F; MODONI A; DEROSA G; DORIGUZZI C; L. PALMUCCI; TONALI P; SERVIDEI S
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/43048
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