Genetic testing for risk evaluation of Moyamoya disease

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670470
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: KURE Shigeo 東北大学, 医学(系)研究科(研究院), 教授 (10205221)
• Co-Investigator(Kenkyū-buntansha): TOMINAGA Teiji 東北大学, 大学院医学系研究科, 教授 (00217548)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 内科系臨床医学 / 小児神経学 / 遺伝子診断 / MRアンギオグラフィー

Outline of Final Research Achievements

Moyamoya disease is characterized by progressive bilateral internal carotid artery stenosis/occlusion and development of abnormal collateral vessels. A genome-wide association study was performed, which resulted in a strong association of RNF213 gene region with risk for Moyamoya disease. Mutational analysis identified a founder mutation c.14576G>A in 73% cases with Moyamoya disease and 1.4% of control individuals, suggesting that the mutation carriers have increased risk for Moyamoya disease, odds ratio, 190.9 (P=1.2x10-43). We developed a genetic testing for this founder mutation by combination of immunochromatography and allele specific oligonucleotide hybridization. We performed this genetic test and MRI angiography in Moyamoya disease patients and their families for development of presymptomatic diagnosis of Moyamoya disease.

Free Research Field

医歯薬学