Japan-China collaboration on the investigation of gene mutation and non-invasive perfusion study on patients with moyamoya disease

2016 Fiscal Year Final Research Report

• Project/Area Number: 26305031
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 海外学術
• Research Field: Neurosurgery
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: Nariai Tadashi 東京医科歯科大学, 大学院医歯学総合研究科, 准教授 (00228090)
• Research Collaborator: Lian Duan 307 PLA Hospital, CErevrovascular Center, Professor and Chief
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: moyamoya disease / RNF213 / CCER2 / DSC-MRI / ASL-MRI / indirect bypass surgery

Outline of Final Research Achievements

We established a system to communicate with Dr. Duan Lian, Professor and Chief, Center for CVD in 302 PLA Hospital, Beijing, China, who are now treating world most number of patients with moyamoya disease. Although gene mutation, RNF213 (p.R4859K), exist in more than 80 % of Japanese patients, our analysis revealed that it was detected only in 15% of Chinese patients. Our whole exon sequence analysis could lead to the finding of CCER2 gene as a novel susceptible one for moyamoya disease. We could get information on the detection of the other several novel susceptible gene mutation that were detected in Chinese patients, although it has not been published yet.
We also could achieve another purpose of the present grant by establishing the system to use the same non-invasive cerebral perfusion measurement method by DSC-MRI and ASL-MRI.

Free Research Field

脳神経外科学