Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene

A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chai...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2003, Vol.26 (6), p.593-600
Main Authors: Grafakou, O., Hol, F. A., Otfried Schwab, K., Siers, M. H., Ter Laak, H., Trijbels, F., Ensenauer, R., Boelen, C., Smeitink, J.
Format: Article
Language:English
Subjects:
Acidosis, Lactic - complications
Acidosis, Lactic - genetics
Adolescent
Biological and medical sciences
Brain - pathology
DNA, Mitochondrial - genetics
Electrocardiography
Electroencephalography
Electromyography
Evoked Potentials, Auditory - physiology
Evoked Potentials, Somatosensory - physiology
Exercise Tolerance - genetics
Feeding. Feeding behavior
Female
Fibroblasts - enzymology
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Humans
Magnetic Resonance Imaging
Molecular and cellular biology
Muscle, Skeletal - enzymology
Muscle, Skeletal - pathology
Muscular Diseases - genetics
Muscular Diseases - pathology
Oxidation-Reduction
Pain - complications
Pain - genetics
Reverse Transcriptase Polymerase Chain Reaction
RNA, Transfer, Ser - genetics
Vertebrates: anatomy and physiology, studies on body, several organs or systems
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Summary:A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle‐only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1025960300710