Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene
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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.
Abstract
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.
참고문헌 (41)
- Suzuki J., "Cerebrovascular"moyamoya"disease. Disease showing abnormal net-like vessels in base of brain", Arch Neurol, 20, pp.288~299 (1969)
- Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis, "Guidelines for diagnosis and treatment of moyamoya disease(Spontaneous Occlusion of the Circle of Willis)", Neurol Med Chir(Tokyo), 52, pp.245~266 (2012)
- Ikeda H., "Mapping of a familial moyamoya disease gene to chromosome 3p24. 2-p26", Am J Hum Genet, 64, pp.533~537 (1999)
- Inoue TK., "Linkage analysis of moyamoya disease on chromosome 6", J Child Neurol, 15, pp.179~182 (2000)
- Sakurai K., "A novel susceptibility locus for moyamoya disease on chromosome 8q23", J Hum Genet, 49, pp.278~281 (2004)
- Yamauchi T., "Linkage of familial moyamoya disease(spontaneous occlusion of the circle of Willis)to chromosome 17q25", Stroke, 31, pp.930~935 (2000)
- Kamada F., "A genome-wide association study identifies RNF213 as the first Moyamoya disease gene", J Hum Genet, 56, pp.34~40 (2011)
- Liu W., "Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development", PLoS One, 6, pp.e22542~ (2011)
- Wu Z., "Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population", PLoS One, 7, pp.e48179~ (2012)
- Miyatake S., "Homozygous c. 14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease", Neurology, 78, pp.803~810 (2012)
- Kobayashi H., "Ablation of Rnf213 retards progression of diabetes in the Akita mouse", Biochem Biophys Res Commun, 432, pp.519~525 (2013)
- Sonobe S., "Temporal profile of the vascular anatomy evaluated by 9. 4-tesla magnetic resonance angiography and histopathological analysis in mice lacking RNF213; a susceptibility gene for moyamoya disease", Brain Res, 1552, pp.64~71 (2014)
- Oka K., "Cerebral haemorrhage in Moyamoya disease at autopsy. Virchows Arch", A Pathol Anat Histol, 392, pp.247~261 (1981)
- Takagi Y., "Histological features of middle cerebral arteries from patients treated for Moyamoya disease", Neurol Med Chir(Tokyo), 47, pp.1~4 (2007)
- Yamashita M., "Histopathology of the brain vascular networks in moyamoya disease", Stroke, 24, pp.1960~1967 (1983)
- Fujimura M., "Lessons learned from moyamoya disease : outcome of direct", Indirect revascularization surgery for 150 affected hemispheres, 2012, pp.52, 327~332
- Kumar A., "Remodeling with neointima formation in the mouse carotid artery after cessation of blood flow", Arterioscler Thromb Vasc Biol, 17, pp.2238~2244 (1997)
- Godin D., "Remodeling of carotid artery is associated with increased expression of matrix metalloproteinases in mouse blood flow cessation model", Circulation, 102, pp.2861~2866 (2000)
- Kim SJ., "Association of thyroid autoantibodies with moyamoya-type cerebrovascular disease : a prospective study", Stroke, 41, pp.173~176 (2010)
- Li H., "Increased thyroid function and elevated thyroid autoantibodies in pediatric patients with moyamoya disease : a case-control study", Stroke, 42, pp.1138~1139 (2011)
- Kuriyama S., "Prevalence and clinicoepidemiological features of moyamoya disease in Japan : findings from a nationwide epidemiological survey", Stroke, 39, pp.42~47 (2008)
- Fukui M., "Moyamoya disease", Neuropathology, 20(Suppl), pp.S61~S64 (2000)
- Kuroda S., "Moyamoya disease : current concepts and future perspectives", Lancet Neurol, 7, pp.1056~1066 (2008)
- Kaku Y., "Outer-diameter narrowing of the internal carotid and middle cerebral arteries in moyamoya disease detected on 3D constructive interference in steady-state MR image : is arterial constrictive remodeling a major pathogenesis?", Acta Neurochir(Wien), 154, pp.2151~2157 (2012)
- Hitomi T., "Downregulation of Securin by the variant RNF213 R4810K(rs112735431, G>A)reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients", Biochem Biophys Res Commun, 438, pp.13~19 (2013)
- Hitomi T., "The moyamoya disease susceptibility variant RNF213 R4810K(rs112735431)induces genomic instability by mitotic abnormality", Biochem Biophys Res Commun, 439, pp.419~426 (2013)
- Yoshimoto T., "Angiogenic factors in moyamoya disease", Stroke, 27, pp.2160~2165 (1996)
- Nanba R., "Increased expression of hepatocyte growth factor in cerebrospinal fluid and intracranial artery in moyamoya disease", Stroke, 35, pp.2837~2842 (2004)
- Kang HS., "Plasma matrix metalloproteinases, cytokines and angiogenic factors in moyamoya disease", J Neurol Neurosurg Psychiatry, 81, pp.673~678 (2010)
- Park YS., "The role of VEGF and KDR polymorphisms in moyamoya disease and collateral revascularization", PLoS One, 7, pp.e47158~ (2012)
- Fujimura M., "Increased expression of serum Matrix Metalloproteinase-9 in patients with moyamoya disease", Surg Neurol, 72, pp.476~480 (2009)
- Fujimura M., "Significance of focal cerebral hyperperfusion as a cause of transient neurologic deterioration after EC-IC bypass for moyamoya disease : comparative study with non-moyamoya patients using 123I-IMP-SPECT", Neurosurgery, 68, pp.957~965 (2011)
- Fujimura M., "Temporary neurologic deterioration due to cerebral hyperperfusion after superficial temporal artery-middle cerebral artery anastomosis in patients with adult-onset moyamoya disease", Surg Neurol, 67, pp.273~282 (2007)
- Kim JE., "Transient hyperperfusion after superficial temporal artery", middle cerebral artery bypass surgery as a possible cause of postoperative transient neurological deterioration, 2008, pp.25, 580~586
- Fujimura M., "Incidence and risk factors for symptomatic cerebral hyperperfusion following superficial temporal artery-middle cerebral artery anastomosis in patients with moyamoya disease", Surg Neurol, 71, pp.442~447 (2009)
- Uchino H., "Predictors and clinical features of postoperative hyperperfusion after surgical revascularization for moyamoya disease : a serial single photon emission CT", positron emission tomography study, 2012, pp.43, 2610~2616
- Fujimura M., "Early appearance of activated matrix metalloproteinase-9 and blood-brain barrier disruption in mice after focal cerebral ischemia and reperfusion", Brain Res, 842, pp.92~100 (1999)
- Montaner J., "Matrix metalloproteinase-9 pretreatment level predicts intracranial hemorrhagiccomplications after thrombolysis in human stroke", Circulation, 107, pp.598~603 (2003)
- Yong VW., "The promise of minocycline in neurology", Lancet Neurol, 3, pp.744~751 (2004)
- Yrjänheikki J., "A tetracycline derivative, minocycline, reduces inflammation and protects against focal cerebral ischemia with a wide therapeutic window", Proc Natl Acad Sci U S A, 96, pp.13496~13500 (1999)
- Fujimura M., "Minocycline prevents focal neurologic deterioration due to cerebral hyperperfusion after extracranial-intracranial bypass for moyamoya disease", Neurosurgery, 74, pp.163~170 (2014)