Personal genome analysis on Alzheimer's disease

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129004
• 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: Niigata University
• Principal Investigator: KUWANO Ryozo 新潟大学, 脳研究所, フェロー (20111734)
• Co-Investigator(Kenkyū-buntansha): KAKITA Akiyoshi 新潟大学, 脳研究所, 教授 (80281012)
• Co-Investigator(Renkei-kenkyūsha): MIYASHITA Akinori 新潟大学, 脳研究所, 助教 (60323995)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: アルツハイマー病 / パーソナルゲノム / 次世代シークエンス / 脳組織 / 遺伝子発現 / 家族内発症 / 変異

Outline of Final Research Achievements

Twin studies and λs (=5.0) of Alzheimer’s disease indicate that genetic risk factors are thought to contribute the development and progression. SNP-based genome-wide association studies have been intensively done. As the most of risk SNPs identified are only small effect on the disease, the family-based genome analysis has been re-evaluated. The next generation sequencing proved to be a new powerful tool to determine rare variants in patents with family history. In addition to genome sequencing, we performed gene expression analysis of human brains diagnosed as to senile plaques and neurofibrillary tangles by the exon-array and next generation sequencing. It should be innovated the possible mechanism that gene expression is regulated by a gene-gene cluster between distal regions on the same chromosome or on a different chromosome, and alternatively by non-coding RNA including microRNA.

Free Research Field

神経分子遺伝学