Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations
| Autor: | David B. Olsen, Flemming Wibrand, Marianne Schwartz, Morten Duno, Anja Lisbeth Frederiksen, John Vissing, Tina D. Jeppesen |
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| Rok vydání: | 2009 |
| Předmět: |
Mutation
medicine.medical_specialty Physiology Point mutation Respiratory chain Biology Mitochondrion medicine.disease_cause medicine.disease Myotonic dystrophy Asymptomatic Enzyme assay Cellular and Molecular Neuroscience Endocrinology Mitochondrial myopathy Physiology (medical) Internal medicine medicine biology.protein Neurology (clinical) medicine.symptom |
| Zdroj: | Muscle & Nerve. 41:607-613 |
| ISSN: | 0148-639X |
| Popis: | We evaluated the diagnostic value of respiratory chain (RC) enzyme analysis of muscle in adult patients with mitochondrial myopathy (MM). RC enzyme activity was measured in muscle biopsies from 39 patients who carry either the 3243A>G mutation, other tRNA point mutations, or single, large-scale deletions of mtDNA. Findings were compared with those obtained from asymptomatic relatives with the 3243A>G mutation, myotonic dystrophy patients, and healthy subjects. Plasma lactate concentration, maximal oxygen uptake, and ragged-red fibers/cytochrome c-negative fibers in muscle were also determined. Only 10% of patients with the 3243A>G point mutation had decreased enzyme activity of one or more RC complexes, whereas this was the case for 83% of patients with other point mutations and 62% of patients with deletions. Abnormal muscle histochemistry was found in 65%, 100%, and 85% of patients, respectively, in these three groups. The results indicate that RC enzyme analysis in muscle is not a sensitive test for MM in adults. In these patients, abnormal muscle histochemistry appears to be a better predictor ofMM. |
| Databáze: | OpenAIRE |
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