Moyamoya disease is caused by cerebral arterial stenosis associated with increased angiogenesis of tiny vessels in certain parts of the brain, and may lead to stroke even in young children.  The disease is relatively common among the Japanese population, but the cause has been unknown to date. It has been assigned as one of the specified intractable diseases by the Ministry of Health, Labour and Welfare in Japan.

 A research group led by Associate Professor Shigeo Kure at Tohoku University Graduate School of Medicine identified RNF213 as Moyamoya disease gene, and found that 70% of Japanese patients have the same gene mutation. It increases a risk of developing Moyamoya disease by 190 times. Genetic testing allows to predict the risk and could lead to a new treatment for stroke. The achievement was published online in Journal of Human Genetics on November 4, 2010.  The paper’s title is “A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.”

More Information (Japanese)

[Contact]
Associate Professor Shigeo Kure
Tohoku University Graduate School of Medicine
TEL: +81-22-717-7285
Ｅ-mail: kure*med.tohoku.ac.jp (Replace * with @)

(Public Relations)
Associate Professor Fuji Nagami
Public Relations Office of Tohoku University Graduate School of Medicine
TEL： +81-22-717-7908, FAX： +81-22-717-7923
E-mail: f-nagami*med.tohoku.ac.jp (Replace * with @)