Exercise intolerance associated with a novel 8300t>C mutation in mitochondrial transfer RNAlys
| العنوان: | Exercise intolerance associated with a novel 8300t>C mutation in mitochondrial transfer RNAlys |
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| المؤلفون: | Michael J. Gambello, Mazen M. Dimachkie, Ren‐Kui Bai, Lee-Jun C. Wong, Tian‐Jian Chen |
| المصدر: | Muscle & Nerve. 34:437-443 |
| بيانات النشر: | Wiley, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Mitochondrial DNA, RNA, Mitochondrial, Physiology, Molecular Sequence Data, Exercise intolerance, Mitochondrion, Biology, medicine.disease_cause, DNA, Mitochondrial, Electron Transport, Cytosine, Cellular and Molecular Neuroscience, Muscular Diseases, Mitochondrial myopathy, Physiology (medical), Internal medicine, medicine, Respiratory muscle, Humans, Point Mutation, Gene, Genetics, Mutation, Exercise Tolerance, Base Sequence, Mitochondrial Myopathies, medicine.disease, Heteroplasmy, Pedigree, Endocrinology, RNA, RNA, Transfer, Lys, Female, Neurology (clinical), medicine.symptom, Thymine |
| الوصف: | Mutations in the mitochondrial genome contribute to the pathophysiology of many neuromuscular diseases. Recently there has been an increased appreciation of the role of mitochondrial DNA (mtDNA) mutations in the etiology of exercise intolerance. Using TTGE (temporal temperature-gradient gel electrophoresis) and sequence analyses of the entire mitochondrial genome, we identified a novel heteroplasmic mutation (8300T>C) in the tRNAlys gene (MTTK) from a patient with unexplained exercise intolerance. The mutation was present in blood, hair, and muscle, with the highest percentage of heteroplasmy found in muscle. The results of muscle respiratory chain enzyme analysis are consistent with tRNA mutation. These data suggest that this novel mutation is yet another mtDNA mutation associated with muscle disease and should be considered in patients with similar symptoms. Muscle Nerve, 2006 |
| تدمد: | 1097-4598 0148-639X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358db92b5f6b44a3bd2ea55aae2c289f https://doi.org/10.1002/mus.20605 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....358db92b5f6b44a3bd2ea55aae2c289f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10974598 0148639X |
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