A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy
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Updated: Sep 29, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Robert W Taylor1, Andrew M Schaefer, Robert McFarland
1Department of Neurology, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK. r.w.taylor@newcastle.ac.uk
Abstract:
We describe a novel mutation in the mitochondrial tRNA(Ile) gene, an A to G transition at nucleotide position 4267, in a 37-year-old woman with myopathy, ataxia and sensorineural hearing loss. The A4267G mutation was heteroplasmic in several of the proband's tissues and single fibre analysis revealed significantly higher levels of mutated mitochondrial DNA in cytochrome c oxidase-deficient fibres than cytochrome c oxidase-positive fibres. It is predicted to disrupt a highly conserved base pair within the aminoacyl acceptor stem of the tRNA causing functional impairment, and as such fulfils all the accepted criteria for pathogenicity. Moreover, we were unable to detect the A4267G mutation in lymphocytes, buccal epithelia and hair of the patient's mother and two siblings, implying that the A4267G transition represents a sporadic, germline mutation.
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