A novel susceptibility locus for moyamoya disease on chromosome 8q23

Sakurai, Kazuo; Horiuchi, Yasue; Ikeda, Hidetoshi; Ikezaki, Kiyonobu; Yoshimoto, Takashi; Fukui, Masashi; Arinami, Tadao

doi:10.1007/s10038-004-0143-6

Cited by 189 publications

(89 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The etiology of moyamoya disease remains unknown, while recent findings suggest the importance of genetic factors (Ikeda et al 1999;Inoue et al 2000;Yamauchi et al 2000;Sakurai et al 2004). A more recent genome-wide association study identified the ring finger protein (RNF) 213 gene (RNF213) in the 17q25-ter region as a susceptibility gene for moyamoya disease among East Asian population (Kamada et al 2011), although the exact function of RNF213 is undetermined.…”

Section: Genetics: Significance Of Rnf213 Susceptibility Genementioning

confidence: 99%

Current Status of Revascularization Surgery for Moyamoya Disease: Special Consideration for Its ‘Internal Carotid-External Carotid (IC-EC) Conversion’ as the Physiological Reorganization System

Fujimura

Tominaga

2015

Tohoku J. Exp. Med.

View full text Add to dashboard Cite

Moyamoya disease is a chronic cerebrovascular disease with unknown etiology, which is characterized by bilateral steno-occlusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network formation at the base of the brain. Moyamoya disease is known to have unique and dynamic nature to convert the vascular supply for the brain from internal carotid (IC) system to the external carotid (EC) system, as indicated by Suzuki's angiographic staging established in 1969. Insufficiency of this 'IC-EC conversion system' may result in cerebral ischemia, as well as in intracranial hemorrhage from inadequate collateral vascular network, both of which represent the clinical presentation of moyamoya disease. Therefore, surgical revascularization by extracranial-intracranial bypass is the preferred procedure for moyamoya disease to complement 'IC-EC conversion' and thus to avoid cerebral infarction and/or intracranial hemorrhage. Long-term outcome of revascularization surgery for moyamoya disease is favorable, but rapid increase in cerebral blood flow on the affected hemisphere could temporarily cause unfavorable phenomenon such as cerebral hyperperfusion syndrome. We would review the current status of revascularization surgery for moyamoya disease based on its basic pathology, and sought to discuss the significance of measuring cerebral blood flow in the acute stage and intensive perioperative management.

show abstract

Section: Genetics: Significance Of Rnf213 Susceptibility Genementioning

confidence: 99%

Current Status of Revascularization Surgery for Moyamoya Disease: Special Consideration for Its ‘Internal Carotid-External Carotid (IC-EC) Conversion’ as the Physiological Reorganization System

Fujimura

Tominaga

2015

Tohoku J. Exp. Med.

View full text Add to dashboard Cite

show abstract

“…As shown in Table 4, four reports from Japan have conducted linkage analysis by using microsatellite markers to specify the susceptible genetic loci on familial moyamoya disease. 22,25,54,77) These reports have specified the susceptible linkage at 3p24.2-p26, 6q25, 17q25, and 8q23 for familial moyamoya disease. A suggestive linkage at 12p12 has also been demonstrated.…”

Section: Geneticsmentioning

confidence: 99%

Review of Past Research and Current Concepts on the Etiology of Moyamoya Disease

Houkin

Ito

Sugiyama

et al. 2012

Neurol. Med. Chir.(Tokyo)

View full text Add to dashboard Cite

Research on moyamoya disease has progressed remarkably in the past several decades. Indeed, many new facts concerning the epidemiology of the disease have been revealed and surgical treatments have been drastically improved. However, despite extensive research, the mechanism of moyamoya disease is still unknown. Consequently, the cardinal treatment of this disease has not yet been developed. For further clarification of its etiology, innovative studies are therefore indispensable. The aim of this paper is to review research on the pathogenesis of moyamoya disease to identify milestones in the direction of its true solution. Many hypotheses of the pathogenesis of moyamoya disease have been proposed in the past half century, including infection (viral and bacterial), autoimmune disorders, proteins abnormality, and gene abnormality. Some of these are now considered to be historical achievements. Others, however, can be still subjected to contemporary research. Currently, several genetic abnormalities are considered to offer the most probable hypothesis. In addition, interesting papers have been presented on the role of the endothelial progenitor cell on the pathogenesis of moyamoya disease. Intuitively, however, it appears that a single theory cannot always explain the pathogenesis of this disease adequately. In other words, the complex mechanism of several factors may comprehensively explain the formation of moyamoya disease. The``double hit hypothesis'' is probably the best explanation for the complicated pathology and epidemiology of this disease.

show abstract

“…9 Second, the concordance rate of MMD in monozygotic twins is as high as 80%. 10 Third, the prevalence of MMD is 10 times higher in East Asia, especially in Japan (6 per 100 000 population), than in Western countries. 3 Familial MMD may be inherited in an autosomal dominant fashion with low penetrance or in a polygenic manner.…”

Section: Introductionmentioning

confidence: 97%

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

et al. 2010

View full text Add to dashboard Cite

Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. Although B15% of MMD cases are familial, the MMD gene(s) remain unknown. A genome-wide association study of 785 720 single-nucleotide polymorphisms (SNPs) was performed, comparing 72 Japanese MMD patients with 45 Japanese controls and resulting in a strong association of chromosome 17q25-ter with MMD risk. This result was further confirmed by a locus-specific association study using 335 SNPs in the 17q25-ter region. A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD (P¼5.3Â10 À10 ). RNF213 encodes a really interesting new gene finger protein with an AAA ATPase domain and is abundantly expressed in spleen and leukocytes. An RNA in situ hybridization analysis of mouse tissues indicated that mature lymphocytes express higher levels of Rnf213 mRNA than their immature counterparts. Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 95% of MMD families, 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P¼1.2Â10 À43 , odds ratio¼190.8, 95% confidence interval¼71.7-507.9). Three additional missense mutations were identified in the p.R4859K-negative patients. These results indicate that RNF213 is the first identified susceptibility gene for MMD.

show abstract

A novel susceptibility locus for moyamoya disease on chromosome 8q23

Cited by 189 publications

References 11 publications

Current Status of Revascularization Surgery for Moyamoya Disease: Special Consideration for Its ‘Internal Carotid-External Carotid (IC-EC) Conversion’ as the Physiological Reorganization System

Current Status of Revascularization Surgery for Moyamoya Disease: Special Consideration for Its ‘Internal Carotid-External Carotid (IC-EC) Conversion’ as the Physiological Reorganization System

Review of Past Research and Current Concepts on the Etiology of Moyamoya Disease

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Contact Info

Product

Resources

About