지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
초록· 키워드
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Moyamoya disease is characterized by a progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is still unknown, recent genome-wide and locus-specific association studies identified RNF213 as an important susceptibility gene of moyamoya disease among East Asian population. A polymorphism in c.14576G>A in RNF213 was identified in 95% of familial patients with moyamoya disease and 79% of sporadic cases, and patients having this polymorphism were found to have significantly earlier disease onset and a more severe form of moyamoya disease, such as the presentation of cerebral infarction and posterior cerebral artery stenosis. The exact mechanism by which the RNF213 abnormality relates to moyamoya disease remains unknown, while recent reports using genetically engineered mice lacking RNF213 by homologous recombination provide new insight for the pathogenesis of this rare entity. Regarding biomarkers of moyamoya disease, moyamoya disease is characterized by an increased expression of angiogenic factors and pro-inflammatory molecules such as vascular endothelial growth factors and matrix metalloproteinase-9, which may partly explain its clinical manifestations of the pathologic angiogenesis, spontaneous hemorrhage, and higher incidence of cerebral hyperperfusion after revascularization surgery. More recently, blockade of these pro-inflammatory molecules during perioperative period is attempted to reduce the potential risk of surgical complication including cerebral hyperperfusion syndrome. In this review article, we focus on the genetics and biomarkers of moyamoya disease, and sought to discuss their clinical implication.
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참고문헌 (24)
참고문헌 신청
Fujimura M. / 2012 / Lessons learned from moyamoya disease : outcome of direct/Indirect revascularization surgery for 150 affected hemispheres / Neurol Med Chir(Tokyo) 52 :
Fukui M. / 2000 / Moyamoya disease / Neuropathology 20 (Suppl) : S61 ~ S64
Godin D. / 2000 / Remodeling of carotid artery is associated with increased expression of matrix metalloproteinases in mouse blood flow cessation model / Circulation 102 : 2
Ikeda H. / 1999 / Mapping of a familial moyamoya disease gene to chromosome 3p24. 2-p26 / Am J Hum Genet 64 : 533 ~ 537
Inoue TK. / 2000 / Linkage analysis of moyamoya disease on chromosome 6 / J Child Neurol 15 : 179 ~ 182
Fukui M. / 2000 / Moyamoya disease / Neuropathology 20 (Suppl) : S61 ~ S64
Godin D. / 2000 / Remodeling of carotid artery is associated with increased expression of matrix metalloproteinases in mouse blood flow cessation model / Circulation 102 : 2
Ikeda H. / 1999 / Mapping of a familial moyamoya disease gene to chromosome 3p24. 2-p26 / Am J Hum Genet 64 : 533 ~ 537
Inoue TK. / 2000 / Linkage analysis of moyamoya disease on chromosome 6 / J Child Neurol 15 : 179 ~ 182
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