Elucidation of pathological roles of mysterin in stenosis of the intracranial arteries using molecular ablation of Rnf213 in themouse

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Mysterin, of which function remains explored little, is a susceptibility gene for moyamoya disease, of which R4810K variant is the founder variant among Asian moyamoya patients. We investigated phenotypes of KO mouse for angiogenesis, immune function, endoplasmic (ER) stress responses. We foundthat diabetic phenotype in the F1 offsprings between KO mouse and Akita mice was progressed significantly slowly when compared with the progression in Akita mise. We thus concluded that mysterin is involved in protein degradation by ER-stress associated protein degradation system.