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Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

Lookup NU author(s): Dr Margaret Jackson, Dr Margaret Johnson, Professor Zofia Chrzanowska-LightowlersORCiD, Professor Robert Taylor, Professor Robert Lightowlers, Emeritus Professor Doug Turnbull


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We describe a young woman with a progressive mitochondrial myopathy that started with muscle weakness and went on to include deafness, dementia and ataxia. Skeletal muscle showed the histological and biochemical features of mitochondrial respiratory chain dysfunction. Genetic analysis identified a novel, heteroplasmic, A to G transition in tRNASer(UCN) at position 7480 affecting a highly conserved base in the anticodon loop. Single-fibre PCR showed highest levels of mutation in cytochrome c-oxidase-deficient fibres and quantification in two biopsies taken 5 years apart showed no change in percentage heteroplasmy. The mutation was present at lower levels in the patient's blood, but was not found in either her mother's or sister's blood and skeletal muscle, suggesting a sporadic occurrence. This is the eighth disease-causing mutation in this tRNA gene and confirms serine (UCN) as one of the most common sites for mtDNA mutation. © 2004 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZMA, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2004

Volume: 14

Issue: 7

Pages: 417-420

Print publication date: 01/07/2004

Online publication date: 25/05/2004

Acceptance date: 15/03/2004

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2004.03.004

PubMed id: 15210164


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