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A New Mitochondrial Transfer RNA(Pro) Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features

Lookup NU author(s): Dr Helen Swalwell, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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Background: Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent. Objective: To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient: Case report of a 49-year-old woman presenting with a myoclonic epilepsy with ragged-red fibers-like disease comprising myoclonic jerks, cerebellar ataxia, and proximal muscle weakness. Results: Histochemical analysis of a muscle biopsy revealed numerous cytochrome-c oxidase-deficient, ragged-red fibers, while biochemical studies indicated decreased activity of respiratory chain complex I. Molecular investigation of mitochondrial DNA revealed a new heteroplasmic mutation in the T psi C stem of the mitochondrial transfer RNA(Pro) gene that segregated with cytochrome-c oxidase deficiency in single muscle fibers. Conclusions: Our case serves to illustrate the everevolving phenotypic spectrum of mitochondrial DNA disease and the importance of performing comprehensive mitochondrial genetic studies in the absence of common mitochondrial DNA mutations.

Publication metadata

Author(s): Blakely EL, Trip SA, Swalwell H, He LP, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW

Publication type: Article

Publication status: Published

Journal: Archives of Neurology

Year: 2009

Volume: 66

Issue: 3

Pages: 399-402

ISSN (print): 0003-9942

ISSN (electronic): 1538-3687

Publisher: American Medical Association


DOI: 10.1001/archneurol.2008.576


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