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

From the Neurological Institute (Drs. Silvestri, Odoardi, Modoni, deRosa, Tonali, and Servidei), Catholic University, Rome; and the Neurological Institute (Drs. Mongini, Doriguzzi, Palmucci), University of Turin, Italy.

Address correspondence and reprint requests to Dr. Serenella Servidei, Neurological Institute Catholic University, L.go A Gemelli 8, 00168 Rome, Italy; e-mail: serenell{at}rm.ats.it

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 tRNA^Trp gene.

Key words: Mitochondrial DNA—Cytochrome c oxidase—tRNA^Trp.