Exploration of disease-related genes based on personal genome analysis and elucidation of pathogenesis in ALS

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129005
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Yokohama City University (2011-2014); Nagoya University (2010)
• Principal Investigator: TANAKA Fumiaki 横浜市立大学, 医学(系)研究科(研究院), 教授 (30378012)
• Co-Investigator(Kenkyū-buntansha): DOI Hiroshi 横浜市立大学, 医学部, 講師 (10326035) ; ATSUTA Naoki 名古屋大学, 医学部附属病院, 講師 (90547457)
• Co-Investigator(Renkei-kenkyūsha): SOBUE Gen 名古屋大学, 医学系研究科, 教授 (20148315)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: ALS / 次世代シーケンサー / エクソーム解析

Outline of Final Research Achievements

We developed a comprehensive genetic diagnostic system of the familial ALS including 28 genes related to familial ALS and 469 sporadic ALS samples were analyzed. We identified known mutations in 14 samples and 115 novel polymorphisms or mutations. Among these, 35 mutations in 30 cases were suspected to be disease-causing. We performed exome sequencing of 800 samples including sporadic ALS and control cases and data analysis is ongoing. In addition, we identified at least 2 SNPs related to rapid progression of sporadic ALS by combinational analysis of genetic information and prospective clinical data of Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).

Free Research Field

神経内科学