2020 Fiscal Year Final Research Report

Elucidation of pathology by molecular genetic approach in Charcot-Marie-Tooth disease

Research Project

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Project/Area Number	18H02742
Research Category	Grant-in-Aid for Scientific Research (B)
Allocation Type	Single-year Grants
Section	一般
Review Section	Basic Section 52020:Neurology-related
Research Institution	Kagoshima University
Principal Investigator	Takashima Hiroshi 鹿児島大学, 医歯学域医学系, 教授 (80372803)
Co-Investigator(Kenkyū-buntansha)	岡本裕嗣鹿児島大学, 医歯学域医学系, 教授 (60709658) 橋口昭大鹿児島大学, 医歯学域鹿児島大学病院, 講師 (70760560)
Project Period (FY)	2018-04-01 – 2021-03-31
Keywords	遺伝性ニューロパシー / Charcot-Marie-Tooth病 / 遺伝子診断 / 脊髄小脳失調症
Outline of Final Research Achievements	Charcot-Marie-Tooth disease (CMT) is a common hereditary peripheral neuropathy. Our CMT genetic diagnosis was able to diagnose 10 of 2481 ATTR-FAP patients and provided effective treatment. From 2007 to the end of 2019, 2481 CMT comprehensive genetic tests were performed to determine the genetic cause in 51.2% of demyelinated and 32.5% axonal patients. In addition, we reported in JNNP the detailed analysis results of comprehensive CMT genetic diagnosis for 1005 consecutive cases. It was an important report for considering the overall measures of CMT by analyzing the frequency and clinical characteristics of each causative gene from various aspects.
Free Research Field	脳神経内科
Academic Significance and Societal Importance of the Research Achievements	日本において、包括的で詳細なCMTの遺伝子診断を年間約250名に行っている。2018年には、連続1005症例について世界で最も詳細に調べた包括的なCMT遺伝子診断の詳細な解析結果をJNNP誌に報告し、原因遺伝子別の頻度や臨床的な特徴について多方面から解析を行い、CMT研究全体を俯瞰するうえでの最も重要な報告のひとつとなっている。さらにミトコンドリア関連遺伝子COA7が軸索型末梢神経障害を伴う小脳失調症をSCAN3 （spinocerebellar ataxia with axonal neuropathy 3：新疾患）の原因となることを突き止め、動物モデルの解析とともに報告した。