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J-GLOBAL ID：201902229758540520   整理番号：19A1642645

MT-ATP6における病原性変異体:英国に基づくミトコンドリア病コホート研究【JST・京大機械翻訳】

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

著者 (34件)： Ng Yi Shiau (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Martikainen Mika H. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Martikainen Mika H. (Faculty of Medicine, University of Turku, and Division of Clinical Neurosciences, Turku University Hospital, Turku, Finland) ,  Gorman Grainne S. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Blain Alasdair (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Bugiardini Enrico (Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom) ,  Bugiardini Enrico (Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom) ,  Bunting Apphia (Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom) ,  Schaefer Andrew M. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Alston Charlotte L. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Blakely Emma L. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Sharma Sunil (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Hughes Imelda (Royal Manchester Children’s Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester, United Kingdom) ,  Lim Albert (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  de Goede Christian (Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom) ,  McEntagart Meriel (South West Thames Regional Genetics Service, St. George’s Hospital, London, United Kingdom) ,  Spinty Stefan (Alder Hey Children’s National Health Service Foundation Trust, Liverpool, United Kingdom) ,  Horrocks Iain (Greater Glasgow and Clyde National Health Service Yorkhill Hospital, Glasgow, United Kingdom) ,  Roberts Mark (Greater Manchester Neuroscience Centre, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, Salford, United Kingdom) ,  Woodward Cathy E. (Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom) ,  Chinnery Patrick F. (Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom) ,  Chinnery Patrick F. (MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, United Kingdom) ,  Horvath Rita (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Horvath Rita (Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom) ,  Nesbitt Victoria (Department of Paediatrics, The Children’s Hospital, Oxford, United Kingdom) ,  Fratter Carl (Oxford Medical Genetics Laboratories, Oxford University Hospitals National Health Service Foundation Trust, Oxford, United Kingdom) ,  Poulton Joanna (Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom) ,  Hanna Michael G. (Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom) ,  Hanna Michael G. (Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom) ,  Pitceathly Robert D. S. (Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom) ,  Pitceathly Robert D. S. (Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom) ,  Taylor Robert W. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  Turnbull Doug M. (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom) ,  McFarland Robert (Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
資料名： Annals of Neurology  (Annals of Neurology)
巻： 86  号： 2  ページ： 310-315  発行年： 2019年 
JST資料番号： T0008A  ISSN： 0364-5134  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： 異なる臨床症候群は病原性MT-ATP6変異体と関連している。本コホート研究では,88人の臨床的に影響を受けた個人と37人の無症候性キャリアを含む125人(60家族)を同定した。31人の個人はLeei症候群を示し,7人は神経障害性運動失調性網膜色素変性症を示した。残りの50人の患者は,運動失調,神経障害,および学習障害を含む様々な非症候性特徴を示した。39家系における母系遺伝を確認し,組織分離パターンと表現型閾値が変異体依存性であることを示した。著者らの知見は,MT-ATP6関連ミトコンドリアDNA疾患がミトコンドリア疾患スペクトル障害として最も良く概念化され,遺伝性運動失調症と神経障害遺伝子パネルに日常的に含まれるべきであることを示唆する。ANN Neurol 2019;86:310-315。Copyright 2019 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： ヒト ,  *英国 ,  家系 ,  ニューロパチー ,  遺伝子 ,  スペクトル ,  *ミトコンドリア病 ,  *病原性 ,  *コホート研究 ,  パネル ,  表現型 ,  学習障害 ,  運動失調
準シソーラス用語： 概念形成 ,  ミトコンドリアDNA ,  無症候性キャリア , 【Automatic Indexing@JST】

分類 (4件)： 神経の基礎医学  (GN01020W) ,  先天性疾患・奇形一般  (GD03010V) ,  神経系の診断  (GN02000H) ,  神経系の疾患  (GN03000O)

タイトルに関連する用語 (7件)： Mt ,  病原性 ,  変異体 ,  英国 ,  ミトコンドリア病 ,  コホート ,  研究