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A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features
Emma L. Blakely, PhD;
S. Anand Trip, PhD, MRCP;
Helen Swalwell, PhD;
Langping He, PhD;
Damian R. Wren, DM, FRCP;
Philip Rich, FRCR, FRCS;
Douglass M. Turnbull, MD, PhD;
Salah E. Omer, FRCP;
Robert W. Taylor, PhD, FRCPath
Arch Neurol. 2009;66(3):399-402.
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 RNAPro 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 C stem of the mitochondrial transfer RNAPro gene that segregated with cytochrome-c oxidase deficiency in single muscle fibers.
Conclusions Our case serves to illustrate the ever-evolving phenotypic spectrum of mitochondrial DNA disease and the importance of performing comprehensive mitochondrial genetic studies in the absence of common mitochondrial DNA mutations.
Author Affiliations: Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne (Drs Blakely, Swalwell, He, Turnbull, and Taylor), and Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery (Dr Trip) and Departments of Neurology and Neuroradiology, St George's Hospital (Drs Wren, Rich, and Omer), London, England.
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