Establishment of preventive healthcare of cerebrovascular disease by gene expression analysis in a familial moyamoya disease

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We have identified a susceptibility locus at 17q25.3 using genome-wide linkage analysis with Japanese autosomal dominant pedigrees. A novel rare variant, ss161110142, which was located within the promoter of the Raptor gene, was common to familial moyamoya disease. minor allele of ss161110142 was much more frequent in case than in controls among East Asian. However, this allele was not detected in the Caucasian case and control. Having carried out positional cloning for this region, we identified mysterin as a susceptible gene for moyamoya disease. This gene encodes a 591kDa protein and functions unknown. Mysterin knock-down zebra fish showed the unique anomaly of angiogenesis. Aberrant function of mysterin may underlie the characteristic vascular phenotype observed in moyamoya disease.