Academic Journal
Intra-mitochondrial methylation deficiency due to mutations in SLC25A26
| العنوان: | Intra-mitochondrial methylation deficiency due to mutations in SLC25A26 |
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| المؤلفون: | Kishita, Y., Pajak, A., Bolar, N. A., Marobbio, C. M., Maffezzini, C., Miniero, D. V., Kohda, M., Stranneheim, H., Murayama, K., Naess, K., Lesko, N., Bruhn, H., Mourier, A., Wibom, R., Nennesmo, I., Jespers, A., Govaert, P., Ohtake, A., Van Laer, L, Loeys, B. L., Freyer, C., Palmieri, F., Wredenberg, A., Okazaki, Y., Wedell, A., MONNE', MAGNUS LUDVIG |
| المساهمون: | Kishita, Y., Pajak, A., Bolar, N. A., Marobbio, C. M., Maffezzini, C., Miniero, D. V., Monne', MAGNUS LUDVIG, Kohda, M., Stranneheim, H., Murayama, K., Naess, K., Lesko, N., Bruhn, H., Mourier, A., Wibom, R., Nennesmo, I., Jespers, A., Govaert, P., Ohtake, A., Van Laer, L, Loeys, B. L., Freyer, C., Palmieri, F., Wredenberg, A., Okazaki, Y., Wedell, A. |
| سنة النشر: | 2015 |
| المجموعة: | Università degli Studi della Basilicata: CINECA IRIS |
| مصطلحات موضوعية: | S-ADENOSYLMETHIONINE TRANSPORTER, RIBOSOMAL-RNA, FUNCTIONAL-CHARACTERIZATION, MITOCHONDRIAL RIBOSOME, BACTERIAL EXPRESSION, ESCHERICHIA-COLI, IDENTIFICATION, RECONSTITUTION, CARRIER, BIOSYNTHESIS |
| الوصف: | S-adenosylmethionine (SAM) is the predominant methyl group donor and has a large spectrum of target substrates. As such, it is essential for nearly all biological methylation reactions. SAM is synthesized by methionine adenosyltransferase from methionine and ATP in the cytoplasm and subsequently distributed throughout the different cellular compartments, including mitochondria, where methylation is mostly required for nucleic-acid modifications and respiratory-chain function. We report a syndrome in three families affected by reduced intra-mitochondrial methylation caused by recessive mutations in the gene encoding the only known mitochondrial SAM transporter, SLC25A26. Clinical findings ranged from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness. We show that SLC25A26 mutations cause various mitochondrial defects, including those affecting RNA stability, protein modification, mitochondrial translation, and the biosynthesis of CoQ10 and lipoic acid. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000364803000012; volume:97; issue:5; firstpage:761; lastpage:768; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11563/114273; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947945386 |
| DOI: | 10.1016/j.ajhg.2015.09.013 |
| الاتاحة: | http://hdl.handle.net/11563/114273 https://doi.org/10.1016/j.ajhg.2015.09.013 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.5CA7665B |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ajhg.2015.09.013 |
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