The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

Abstract

We sequenced all mitochondrial tRNA genes in a 61-year-old man with chronic progressive external ophthalmoplegia and mitochondrial myopathy but without mtDNA rearrangements, and identified a heteroplasmic m.3244G>A mutation in the tRNA(Leu(UUR)) gene. This mutation had been previously associated with the MELAS phenotype, but not described in any detail. The mutation load in muscle was 84% and COX-negative fibers harbored greater levels of mutant genomes than COX-positive fibers. The m.3244G>A mutation affects a highly conserved nucleotide in the dihydrouridine loop and has been associated with a wobble modification deficiency of the mutant tRNA.

• Authors: Evangelia Sotiriou, Jorida Coku, Kurenai Tanji, Hua-bin Huang, Michio Hirano, Salvatore DiMauro
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 19 Issue 4 Pg. 297-9 (Apr 2009) ISSN: 1873-2364 [Electronic] England
• PMID: 19285865 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Nucleotides
• RNA, Transfer, Leu

Topics

• Base Sequence
• Conserved Sequence (genetics)
• DNA Mutational Analysis
• DNA, Mitochondrial (genetics)
• Disease Progression
• Genetic Predisposition to Disease (genetics)
• Humans
• Male
• Middle Aged
• Mitochondrial Diseases (genetics, metabolism, physiopathology)
• Muscle Fibers, Skeletal (metabolism, pathology)
• Mutation (genetics)
• Nucleotides (genetics)
• Oculomotor Muscles (metabolism, physiopathology)
• Ophthalmoplegia, Chronic Progressive External (genetics, metabolism, physiopathology)
• Quadriceps Muscle (metabolism, pathology)
• RNA, Transfer, Leu (genetics)