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ファイル | 記述 | サイズ | フォーマット | |
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j.ajhg.2014.06.007.pdf | 6.39 MB | Adobe PDF | 見る/開く |
タイトル: | Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations. |
著者: | Oda, Hirotsugu Nakagawa, Kenji Abe, Junya Awaya, Tomonari https://orcid.org/0000-0002-9004-3172 (unconfirmed) Funabiki, Masahide Hijikata, Atsushi Nishikomori, Ryuta Funatsuka, Makoto Ohshima, Yusei Sugawara, Yuji Yasumi, Takahiro Kato, Hiroki Shirai, Tsuyoshi Ohara, Osamu Fujita, Takashi Heike, Toshio |
著者名の別形: | 小田, 紘嗣 西小森, 隆太 平家, 俊男 |
発行日: | 3-Jul-2014 |
出版者: | Elsevier Inc. |
誌名: | American journal of human genetics |
巻: | 95 |
号: | 1 |
開始ページ: | 121 |
終了ページ: | 125 |
抄録: | Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. Our Japanese nationwide AGS survey identified six AGS-affected individuals without a molecular diagnosis; we performed whole-exome sequencing on three of these individuals. After removal of the common polymorphisms found in SNP databases, we were able to identify IFIH1 heterozygous missense mutations in all three. In vitro functional analysis revealed that IFIH1 mutations increased type I interferon production, and the transcription of interferon-stimulated genes were elevated. IFIH1 encodes MDA5, and mutant MDA5 lacked ligand-specific responsiveness, similarly to the dominant Ifih1 mutation responsible for the SLE mouse model that results in type I interferon overproduction. This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon. |
記述: | アイカルディ・グチエール症候群の新規責任遺伝子IFIH1の同定. 京都大学プレスリリース. 2014-07-04. |
著作権等: | © 2014 The American Society of Human Genetics. Published by Elsevier Inc. This is not the published version. Please cite only the published version. この論文は出版社版でありません。引用の際には出版社版をご確認ご利用ください。 |
URI: | http://hdl.handle.net/2433/188948 |
DOI(出版社版): | 10.1016/j.ajhg.2014.06.007 |
PubMed ID: | 24995871 |
関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2014-07-04 |
出現コレクション: | 学術雑誌掲載論文等 |
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