Searching the Causative Gene of Familial Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis)

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Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. To see whether a gene related to Moyamoya disease is loc on chromosome 17, we have conducted microsatellite linkage analyzes on eight families and 16 affected sib pairs of Moyamoya disease. Two-point linkage analysis gave a maximum LOD score of 3.11 at the recombination fraction of 0.00 for the marker a locus D17S939. The affected pedigree member method also showed a significantly low P-value (< 1.0 x 10-5) for the five adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within D17S785-D17S836, a 9-cM region, with a maximum LOD score of 4.58 (Yamauchi et al., 2000). To find the causative gene in this particular region of chromosome 17q25, we are now conducting sequencing studies on a total of 59 known genes and 102 ESTs for the patients and non-diseased individuals in the pedigrees. At the moment, we have not succeeded to discover the causative gene. We are continuing the sequence studies by employing new strategies utilizing information on SNPs, CpG islands, and other genome sequencing data.