著者

加藤 裕基 澤田 弘崇 佐藤 泰貴 吉川 健人 臼井 寛裕 菅原 春菜 高野 安見子 坂本 文信 宮岡 幹夫 倉冨 剛 KATO Hiroki SAWADA Hirotaka SATO Yasutaka YOSHIKAWA Kent USUI Tomohiro SUGAWARA Haruna TAKANO Amiko SAKAMOTO Fuminobu MIYAOKA Mikio KURATOMI Takeshi

出版者

宇宙航空研究開発機構宇宙科学研究所(JAXA)(ISAS)

雑誌

第21回宇宙科学シンポジウム 講演集 = Proceedings of the 21st Space Science Symposium

巻号頁・発行日

2021-01

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第21回宇宙科学シンポジウム (2021年1月6日-7日. オンライン開催)

著者

Oda Hirotsugu Nakagawa Kenji Abe Junya Awaya Tomonari Funabiki Masahide Hijikata Atsushi Nishikomori Ryuta Funatsuka Makoto Ohshima Yusei Sugawara Yuji Yasumi Takahiro Kato Hiroki Shirai Tsuyoshi Ohara Osamu Fujita Takashi Heike Toshio

出版者

Elsevier Inc.

雑誌

American journal of human genetics (ISSN:15376605)

巻号頁・発行日

vol.95, no.1, pp.121-125, 2014-07-03

被引用文献数

167

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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.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.

著者

Oda Hirotsugu Nakagawa Kenji Abe Junya Awaya Tomonari Funabiki Masahide Hijikata Atsushi Nishikomori Ryuta Funatsuka Makoto Ohshima Yusei Sugawara Yuji Yasumi Takahiro Kato Hiroki Shirai Tsuyoshi Ohara Osamu Fujita Takashi Heike Toshio

出版者

Elsevier Inc.

雑誌

American journal of human genetics (ISSN:15376605)

巻号頁・発行日

vol.95, no.1, pp.121-125, 2014-07-03

被引用文献数

167

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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.