A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

Abstract

We report a heteroplasmic novel mutation m.5636T>C in the mt-tRNA(Ala) in a patient with bilateral ptosis and ophthalmoparesis in whom a muscle biopsy showed cytochrome c oxdidase (COX) negative and ragged red fibers. Using laser capture microdissection we have isolated COX negative fibers and COX positive fibers from the muscle of the patient and determined that the mutation load was clearly increased in COX negative muscle fibers. Additionally, the mutated m.5636T nucleotide is conserved in all the mammal and non-mammal species analyzed and might be structurally relevant as it is located in a position involved in the formation of tertiary structure of canonical mitochondrial tRNAs.

• Authors: Tomàs Pinós, Mario Marotta, Eduard Gallardo, Isabel Illa, Jorge Díaz-Manera, Emiliano Gonzalez-Vioque, Elena García-Arumí, Antoni L Andreu, Ramon Martí
• Journal: Mitochondrion (Mitochondrion) Vol. 11 Issue 1 Pg. 228-33 (Jan 2011) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 20813205 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Ala

Topics

• Adult
• Biopsy
• DNA, Mitochondrial (genetics)
• Genes, Mitochondrial
• Humans
• Male
• Microdissection (methods)
• Mitochondria (metabolism, pathology)
• Muscle, Skeletal
• Mutation
• Ophthalmoplegia, Chronic Progressive External (genetics, metabolism, pathology)
• RNA, Transfer, Ala (genetics)