A Novel Mutation in the TRNAIle Gene (MTTI) Affecting the Variable Loop in a Patient with Chronic Progressive External Ophthalmoplegia (CPEO)

Overview

Journal Neuromuscul Disord

Specialty Neurology

Date 2010 Feb 13

PMID 20149659

Citations 7

Authors

Andres Berardo

Jorida Coku

Bulent Kurt

Salvatore DiMauro

Michio Hirano

Affiliations

Soon will be listed here.

Abstract

We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNA(Ile) gene (MTTI). This is the first mutation at position 44 in the variable loop (V loop) of any mitochondrial tRNA. The muscle biopsy revealed 10% ragged-red/ragged-blue fibers and 25% cytochrome c oxidase (COX)-deficient fibers. No deletions or duplications were detected by Southern blot analysis. The 4302A>G transition was present only in the patient's muscle and single-fiber analysis revealed significantly higher levels of the mutation in COX-deficient than in normal fibers. Like tRNA(Leu(UUR)), tRNA(Ile) appears to be a "hot spot" for mtDNA mutations causing CPEO.

Citing Articles

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