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J-GLOBAL ID：202002242736313521   整理番号：20A0967663

MyorG変異ヘテロ接合性は脳石灰化と関連する【JST・京大機械翻訳】

MYORG Mutation Heterozygosity Is Associated With Brain Calcification

著者 (41件)： Chen You (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen You (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Cen Zhidong (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Cen Zhidong (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen Xinhui (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Wang Haotian (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Wang Haotian (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen Si (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen Si (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Yang Dehao (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Yang Dehao (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Fu Feng (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Fu Feng (Department of Neurology, Zhuji People’s Hospital of Zhejiang Province, Shaoxing, Zhejiang, China) ,  Wang Lebo (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Liu Peng (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Liu Peng (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Wu Hongwei (Department of Neurology, Lishui People’s Hospital, Lishui, Zhejiang, China) ,  Zheng Xiaosheng (Department of Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang, China) ,  Xie Fei (Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Ouyang Zhiyuan (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Zhang Yun (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Zhou Yongji (Department of Neurology, Hangzhou Geriatric Hospital (Hangzhou First People’s Hospital Chengbei branch), Hangzhou, Zhejiang, China) ,  Huang Xuerong (Department of Neurology, The Third Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China) ,  Wang Feng (Department of Neurology, Taizhou Hospital, Taizhou, Zhejiang, China) ,  Huang Guangsu (Department of Neurology, Liuzhou People’s Hospital, Liuzhou, Guangxi, China) ,  An Hongwei (Department of Neurology, Liuzhou Traditional Chinese Medical Hospital, Liuzhou, Guangxi, China) ,  Liang Yubing (Department of Neurology, Liuzhou Traditional Chinese Medical Hospital, Liuzhou, Guangxi, China) ,  Hong Weijun (Department of Neurology, Taizhou Enze Medical Center (Group) Enze Hospital, Taizhou, Zhejiang, China) ,  Wang Anli (Department of Neurology, Pujiang County People’s Hospital, Jinhua, Zhejiang, China) ,  Huang Shuangling (Department of Neurology, Liping Hospital of Chinese Traditional Medicine, Liping, Guizhou, China) ,  Chen Wenhai (Department of Neurology, Liping County People’s Hospital, Liping, Guizhou, China) ,  Yin Lili (Department of Neurology, Sanmen People’s Hospital, Taizhou, Zhejiang, China) ,  Yang Yan (Neurology Department, Affiliated Hospital of Jining Medical University, Jining, Shandong, China) ,  Yang Yan (Geriatric Department, the Second Clinical Medicine College of Jining Medical University, Jining, Shandong, China) ,  Huang Huayun (Department of Neurology, Changxing County People’s Hospital, Huzhou, Zhejiang, China) ,  Zeng Ruxin (Department of Neurology, Cangnan People’s Hospital, Wenzhou, Zhejiang, China) ,  Zhao Na (Department of Neurology, Wenzhou Hospital of Traditional Chinese Medicine Affiliated to Zhejiang Chinese Medical University, Wenzhou, Zhejiang, China) ,  Jiang Biao (Department of Radiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Zhang Baorong (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Luo Wei (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  the Chinese PFBC Study Group
資料名： Movement Disorders  (Movement Disorders)
巻： 35  号： 4  ページ： 679-686  発行年： 2020年 
JST資料番号： W2689A  ISSN： 0885-3185  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 背景:MYORG遺伝子における二対立遺伝子突然変異は,最初に,再発遺伝性原発性家族性脳石灰化の原因として同定された。興味深いことに,いくつかのヘテロ接合性キャリアも脳石灰化を示した。【目的】脳石灰化の発生における単一ヘテロ接合MYORG突然変異の役割をさらに研究する。【方法】中国人原発性家族性脳石灰化発端者の全国的コホートを,2016年3月から2019年9月まで登録した。MYORGの突然変異解析は,他の4つの既知の原発性家族性脳石灰化原因遺伝子(SLC20A2,PDGFRB,PDGFB,およびXPR1)の突然変異に陰性であった435人の原発性家族性脳石灰化発端者で行われた。【結果】:双対立遺伝子MYORG突然変異は,10の無関係な家族からの14人の原発性家族性脳石灰化患者において同定された。興味あることに,これらの家族の7からの12のヘテロ接合性キャリアも軽度から中等度の脳石灰化を示した。さらに,単一ヘテロ接合性突然変異は,脳石灰化に影響を受けた9人の発端者と7人の家族において検出された。著者らのコホートにおいて,二対立遺伝子突然変異を有する個人の臨床的および画像浸透率は100%であったが,ヘテロ接合性突然変異を有する個人の間で,画像表現型の浸透率は73.7%(28の28)に減少して,臨床浸透率ははるかに低かった。ほとんどの患者(38名中34名)は無症候性を維持していたが,4名のキャリアは不確実な臨床的有意性(非特異的欝病,てんかんおよび遅発性パーキンソニズム)の症状を有していた。双対立遺伝子MYORG突然変異を有する個体と比較して,ヘテロ接合性突然変異を有する個体は,はるかに低い石灰化スコア(P<2e-16)を有する脳石灰化を有した。結論:ヘテロ接合MYORG変異を有する個体における脳石灰化の存在は,不完全浸透性を有する半正統遺伝パターンを示唆した。この知見はMYORG関連一次家族性脳石灰化の遺伝子型-表現型相関をさらに拡大した。Copyright 2020 Wiley Publishing Japan K.K. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *ヘテロ接合 ,  不確実性 ,  遺伝 ,  遺伝子 ,  *石灰化 ,  てんかん ,  突然変異 ,  うつ病 ,  対立遺伝子 ,  浸透率 ,  母集団
準シソーラス用語： 中国人 ,  *ヘテロ接合性 ,  変異解析 ,  原因遺伝子 , 【Automatic Indexing@JST】

著者キーワード (3件)： ヘテロ接合 ,  Myorg ,  原発性家族性脳石灰化

分類 (2件)： 遺伝的変異  (EC01030Y) ,  神経系の疾患  (GN03000O)

タイトルに関連する用語 (4件)： 変異 ,  ヘテロ接合性 ,  脳石 ,  灰化