A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.

Abstract

We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle. Sequencing of all the mitochondrial transfer RNA (tRNA) genes identified a single potentially pathogenic mutation--a T to C transition at position 4274 in the tRNA(Ile) gene. This mutation was not present in skeletal muscle from 79 controls, and the level of the mutation in COX-negative fibers was significantly greater than the level in COX-positive fibers.

• Authors: P F Chinnery, M A Johnson, R W Taylor, W F Durward, D M Turnbull
• Journal: Neurology (Neurology) Vol. 49 Issue 4 Pg. 1166-8 (Oct 1997) ISSN: 0028-3878 [Print] United States
• PMID: 9339712 (Publication Type: Case Reports, Journal Article)

Chemical References

• RNA, Mitochondrial
• Isoleucine
• RNA
• RNA, Transfer
• Electron Transport Complex IV

Topics

• Adult
• Chronic Disease
• Cytochrome-c Oxidase Deficiency
• Disease Progression
• Electron Transport Complex IV (metabolism)
• Female
• Humans
• Isoleucine (genetics)
• Muscle Fibers, Skeletal (enzymology)
• Muscle, Skeletal (enzymology)
• Ophthalmoplegia (enzymology, genetics, physiopathology)
• Point Mutation
• RNA (genetics)
• RNA, Mitochondrial
• RNA, Transfer (genetics)