Overseas research for motor neuron disease with TFG gene mutation

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H05293
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 海外学術
• Research Field: Neurology
• Research Institution: Kyoto Prefectural University of Medicine
• Principal Investigator: Naskagawa Masanori 京都府立医科大学, 医学(系)研究科(研究院), 教授 (50198040)
• Co-Investigator(Kenkyū-buntansha): 梶 龍兒 徳島大学, 大学院医歯薬学研究部(医学系), 教授 (00214304) ; 能登 祐一 京都府立医科大学, 医学(系)研究科(研究院), 助教 (50637270) ; 高嶋 博 鹿児島大学, 医歯学域医学系, 教授 (80372803)
• Research Collaborator: Izumo Shuji 鹿児島大学, 医歯薬総合研究科, 教授 ; Yamaguchi Masamitsu 京都工芸繊維大学, 応用生物学, 教授 ; Maeda Kengo 国立病院機構, 滋賀病院神経内科, 医長 ; Shiga Kensuke 京都府立医科大学, 医学研究科, 准教授 ; Angelina Lino ブラジル・サンパウロ大学, 神経内科, 教授 ; Michael Shy アイオワ大学, 神経内科, 教授 ; Luca Padua カソリック大学, 神経内科, 教授 ; Choi Byung-Ok Sungkyunkwan大学, 神経内科, 教授
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: TFG遺伝子異常 / 神経科学 / 運動ニューロン病 / 遺伝性ニューロパチー / 分子疫学 / アジア・オセアニア地域

Outline of Final Research Achievements

We have a special interest in Hereditary Motor Sensory Neuropathy with Proximal dominant involvement (HMSN-P) in Asian-Oceanic area. In 2012, we identified the causative gene of HMSN-P, TRK-fused gene (TFG), by exome sequencing. After the report of TFG, new families with HMSN-P have been reported from Korea, Taiwan, Iran, Brazil, Peru and USA.
We have held the inaugural meeting of Asia-Oceanic Inherited Neuropathy Consortium (AOINC) at University of Malaya, August 22, 2016 and the second AOINC meeting at Kyoto, September 22, 2017. The aims of this international collaboration study are to establish an Asia-Oceanic Inherited Neuropathy (HN) patient registry and an affordable molecular diagnostic system, and to search new therapies for HN and prepare the clinical trial system in this region in collaboration North America/European HN study groups.

Free Research Field

神経内科学