A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy

Abstract We identified a novel G3283A transition in the mitochondrial DNA tRNALeu (UUR) gene in a patient with ptosis, ophthalmoparesis and hyporeflexia. Muscle biopsy showed cytochrome oxidase positive ragged-red fibers, and defects of complexes I, III and IV of the mitochondrial respiratory chain....

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2007-05, Vol.17 (5), p.415-418
Main Authors: Maeso, E, Rueda, A, Jiménez, S, del Hoyo, P, Martín, R, Cabello, A, Mendoza, L.M, Arenas, J, Campos, Y
Format: Article
Language:English
Subjects:
Aged, 80 and over
DNA Mutational Analysis - methods
DNA, Mitochondrial - genetics
Female
Humans
Mitochondria
Mitochondrial diseases
Mitochondrial DNA
Muscle, Skeletal - chemistry
Muscle, Skeletal - metabolism
Mutation
Neurology
Ocular myopathy
Ophthalmoplegia, Chronic Progressive External - genetics
Ophthalmoplegia, Chronic Progressive External - pathology
RNA, Transfer, Leu - genetics
Transfer RNA Leu (UUR)
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Summary:Abstract We identified a novel G3283A transition in the mitochondrial DNA tRNALeu (UUR) gene in a patient with ptosis, ophthalmoparesis and hyporeflexia. Muscle biopsy showed cytochrome oxidase positive ragged-red fibers, and defects of complexes I, III and IV of the mitochondrial respiratory chain. The mutation was heteroplasmic in muscle of the proband, being absent in her blood. Ragged-red fibers harbored greater levels of mutant genomes than normal fibers. The G3283A mutation affects a strictly conserved base pair in the TΨC stem of the gene and was not found in controls, thus satisfying the accepted criteria for pathogenicity.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2007.01.015