A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

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.

• Authors: M Mancuso, M Filosto, V K Mootha, A Rocchi, S Pistolesi, L Murri, S DiMauro, G Siciliano
• Journal: Neurology (Neurology) Vol. 62 Issue 11 Pg. 2119-21 (Jun 08 2004) ISSN: 1526-632X [Electronic] United States
• PMID: 15184630 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Phe
• Electron Transport Complex IV

Topics

• Adolescent
• Adult
• Amino Acid Substitution
• DNA, Mitochondrial (genetics)
• Electron Transport Complex IV (analysis)
• Genetic Heterogeneity
• Humans
• MERRF Syndrome (genetics, pathology)
• Mitochondria (chemistry)
• Muscles (chemistry, ultrastructure)
• Mutation, Missense
• Organ Specificity
• Point Mutation
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length
• RNA, Transfer, Phe (genetics)