The roles of mitochondrial tRNA mutations in non-dystrophic myotonias
| العنوان: | The roles of mitochondrial tRNA mutations in non-dystrophic myotonias |
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| المؤلفون: | Yu Ding, Xue-Jiao Yu |
| المصدر: | Mitochondrial DNA. Part B, Resources article-version (VoR) Version of Record |
| بيانات النشر: | Informa UK Limited, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0106 biological sciences, 0301 basic medicine, Genetics, phylogenetic analysis, mt-tRNA mutations, pathogenic, NDM, Biology, 010603 evolutionary biology, 01 natural sciences, Mitochondrial trna, 03 medical and health sciences, 030104 developmental biology, Molecular Biology, Rapid Communication, Research Article |
| الوصف: | According a recent report by Heidari et al., a mutational screening for candidate pathogenic mitochondrial tRNA (mt-tRNA) mutations were performed in 45 Iranian patients with non-dystrophic myotonia (NDM) and 70 control subjects. Through PCR amplification and direct sequence analysis, nine mt-tRNA mutations were identified: tRNAMet T4454C, tRNATrp A5568G, tRNACys T5794C, tRNAArg A10438T and T10462C, tRNALeu(CUN) A12308G, tRNAThr A15907G, A15924G and G15928A. However, through the database searches and phylogenetic conservation analysis, we noticed that the tRNAThr A15924G, G15928A and tRNALeu(CUN) A12308G mutations should be classified ‘pathogenic’. Thus, the roles of mt-tRNA mutations in clinical expression of NDM needed to be further experimentally addressed. |
| تدمد: | 2380-2359 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9556464eecf9b01c83cc194189721e5Test https://doi.org/10.1080/23802359.2020.1839364Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....b9556464eecf9b01c83cc194189721e5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23802359 |
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