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

Tomàs Pinós, Mario Marotta, Eduard Gallardo, Isabel Illa, Jorge Díaz-Manera, Emiliano Gonzalez-Vioque, Elena García-Arumí, Antoni L. Andreu, Ramon Martí

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Abstract

We report a heteroplasmic novel mutation m.5636T>C in the mt-tRNAAla 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. © 2010 Elsevier B.V. and Mitochondria Research Society.
Original languageEnglish
Pages (from-to)228-233
JournalMitochondrion
Volume11
Issue number1
DOIs
Publication statusPublished - 1 Jan 2011

Keywords

  • Laser capture microdissection
  • Mitochondria
  • Mt-tRNA Ala
  • PEO

Fingerprint Dive into the research topics of 'A novel mutation in the mitochondrial tRNA<sup>Ala</sup> gene (m.5636T>C) in a patient with progressive external ophthalmoplegia'. Together they form a unique fingerprint.

Cite this