A novel mitochondrial tRNA Phe mutation causes MERRF syndrome
- 8 June 2004
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 62 (11), 2119-2121
- https://doi.org/10.1212/01.wnl.0000127608.48406.f1
Abstract
A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytochrome c oxidase (COX)-negative ragged red fibers (RRFs) than in COX-positive non-RRFs. This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations.Keywords
This publication has 5 references indexed in Scilit:
- A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndromeNeuromuscular Disorders, 2003
- [43]Cytochemistry and immunocytochemistry of mitochondria in tissue sectionsMethods in enzymology, 1996
- A Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap SyndromeBiochemical and Biophysical Research Communications, 1995
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- Cytochrome c oxidase deficiency in leigh syndromeAnnals of Neurology, 1987