Elucidation of molecular bases of brain diseases based on personal genome information

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129002
• 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: The University of Tokyo
• Principal Investigator: TSUJI Shoji 東京大学, 医学部附属病院, 教授 (70150612)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: ゲノム / 個人ゲノム / 脳疾患 / インフォマティクス / シーケンサー

Outline of Final Research Achievements

Applying comprehensive genome sequencing with next generation sequencers, we conducted molecular genetics studies to elucidate molecular bases of hereditary neurodegenerative diseases as well as sporadic neurodegenerative diseases. We discovered the causative gene (TFG) for Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P). We also discovered the causative gene (ERBB4) for familial amyotrophic lateral sclerosis (ALS19). Regarding sporadic neurodegenerative diseases, we discovered that COQ2 is the causative gene for familial multiple system atrophy (MSA), and furthermore, multiple rare variants of COQ2 increase the risk for developing sporadic MSA.

Free Research Field

神経内科学，分子遺伝学