We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia. dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

TOMELLERI, Giuliano;VATTEMI, Gaetano Nicola;RIZZUTO, Nicolo';TONIN, PAOLA
2001-01-01

Abstract

We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia. dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.
2001
chronic progressive external ophthalmoplegia; mitochondrial DNA; tRNA(Ala) gene
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/305727
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