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.

journal_name

Neurology

journal_title

Neurology

authors

Silvestri G,Mongini T,Odoardi F,Modoni A,deRosa G,Doriguzzi C,Palmucci L,Tonali P,Servidei S

doi

10.1212/wnl.54.8.1693

subject

Has Abstract

pub_date

2000-04-25 00:00:00

pages

1693-6

issue

8

eissn

0028-3878

issn

1526-632X

journal_volume

54

pub_type

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