دورية أكاديمية
Identification of novel mutations in five patients with mitochondrial encephalomyopathy
| العنوان: | Identification of novel mutations in five patients with mitochondrial encephalomyopathy |
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| المؤلفون: | Valente L., Piga D., Lamantea E., Carrara F., Uziel G., Cudia P., Zani A., Farina L., Morandi L., Mora M., Spinazzola A., Zeviani M., Tiranti V. |
| المساهمون: | Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. |
| بيانات النشر: | ELSEVIER SCIENCE BV |
| سنة النشر: | 2009 |
| المجموعة: | Padua Research Archive (IRIS - Università degli Studi di Padova) |
| مصطلحات موضوعية: | Mitochondrial DNA, mtDNA mutation, mtDNA Sequence analysi, Respiratory chain complex deficiency, Adult, Brain, Child, DNA, DNA Primer, Mitochondrial, Electron Transport Complex IV, Human, Magnetic Resonance Imaging, Mitochondria, Muscle, Mitochondrial Encephalomyopathie, Skeletal, NADH Dehydrogenase, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Succinate Dehydrogenase, Mutation |
| الوصف: | MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNATrp and tRNAPhe, respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders. © 2008 Elsevier B.V. All rights reserved. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/18977334; info:eu-repo/semantics/altIdentifier/wos/WOS:000266475400025; volume:1787; issue:5; firstpage:491; lastpage:501; numberofpages:11; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354305Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67349197091 |
| DOI: | 10.1016/j.bbabio.2008.10.001 |
| الإتاحة: | https://doi.org/10.1016/j.bbabio.2008.10.001Test http://hdl.handle.net/11577/3354305Test |
| رقم الانضمام: | edsbas.B02999E0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.bbabio.2008.10.001 |
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