論文 - 詳細
| RRC ID | 35107 |
|---|---|
| 著者 | Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, 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 BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. |
| タイトル | Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. |
| ジャーナル | Am J Hum Genet |
| Abstract |
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. |
| 巻・号 | 97(5) |
| ページ | 761-8 |
| 公開日 | 2015-11-5 |
| DOI | 10.1016/j.ajhg.2015.09.013 |
| PII | S0002-9297(15)00402-4 |
| PMID | 26522469 |
| PMC | PMC4667130 |
| MeSH | Amino Acid Sequence Amino Acid Transport Systems / genetics* Calcium-Binding Proteins / genetics* Child, Preschool DNA Methylation* Female Humans Male Mitochondrial Diseases / genetics* Mitochondrial Diseases / pathology* Molecular Sequence Data Muscle Weakness / genetics* Muscle Weakness / pathology Mutation / genetics* Pedigree Prognosis RNA Stability S-Adenosylmethionine / metabolism* Sequence Homology, Amino Acid Thioctic Acid / metabolism Ubiquinone / analogs & derivatives Ubiquinone / metabolism |
| IF | 10.502 |
| 引用数 | 22 |
| WOS 分野 | GENETICS & HEREDITY |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 8 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 遺伝子材料 | CS-CA-MCS (RDB05963) |