Development of a new method to predict disease-causing mechanisms of missense mutations

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K21487
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Life / Health / Medical informatics; Medical genome science
• Research Institution: Nagahama Institute of Bio-Science and Technology
• Principal Investigator: HIJIKATA Atsushi 長浜バイオ大学, バイオサイエンス学部, プロジェクト特任講師 (80415273)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: ミスセンス変異 / 遺伝性疾患 / タンパク質立体構造 / データベース / ハプロ不全 / ドミナントネガティブ / 機能獲得変異

Outline of Final Research Achievements

Estimating molecular mechanisms of missense mutations on a particular disease is still challenging in the research field. In this study, I analyzed disease-causing missense mutations with its positions on protein structure, especially on macromolecular structures and found a clear relationship between the disease-causing mechanisms and the mutation residue positions on the 3D structures. According to the relationship, I developed a novel method to predict the disease-causing mechanisms caused by given missense mutations.

Free Research Field

構造バイオインフォマティクス