Abstract
Early diagnosis and early surgical intervention are critical for improving the prognosis of moyamoya disease (MMD). For early diagnosis, it is necessary to develop biomarkers that can be used for the evaluation of MMD risk. In this chapter, biomarkers such as clinical symptoms, radiographic findings, protein markers, and genetic markers are discussed. RNF213 is the first susceptibility gene for MMD identified in East Asian countries. Genetic testing for the c.14576G>A variant in RNF213 has been shown to be useful for the evaluation of risk and the prediction of the severity of MMD. We are currently genotyping the c.14576G>A variant and providing genetic counseling to improve patients’ understanding of the disease risk. How the RNF213 variant causes the vascular abnormalities of MMD remains unknown. The elucidation of the physiological function of the RNF213 gene product may lead to the development of a new drug that is effective for the treatment or prevention of MMD.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol. 1969;20(3):288–99.
Fujimura M, Tominaga T. Current status of revascularization surgery for Moyamoya disease: special consideration for its ‘internal carotid-external carotid (IC-EC) conversion’ as the physiological reorganization system. Tohoku J Exp Med. 2015;236(1):45–53.
Kuroda S, Kashiwazaki D, Ishikawa T, Nakayama N, Houkin K. Incidence, locations, and longitudinal course of silent microbleeds in moyamoya disease: a prospective T2*-weighted MRI study. Stroke. 2013;44(2):516–8.
Chabbert V, Ranjeva JP, Sevely A, Boetto S, Berry I, Manelfe C. Diffusion- and magnetisation transfer-weighted MRI in childhood moya-moya. Neuroradiology. 1998;40(4):267–71.
Amano T, Inoha S, Wu CM, Matsushima T, Ikezaki K. Serum alpha1-antitrypsin level and phenotype associated with familial moyamoya disease. Childs Nerv Syst. 2003;19(9):655–8.
Kang HS, Kim JH, Phi JH, Kim YY, Kim JE, Wang KC, et al. Plasma matrix metalloproteinases, cytokines and angiogenic factors in moyamoya disease. J Neurol Neurosurg Psychiatry. 2010;81(6):673–8.
Yanagawa Y, Sugiura T, Suzuki K, Okada Y. Moyamoya disease associated with positive findings for rheumatoid factor and myeloperoxidase-anti-neutrophil cytoplasmic antibody. West Indian Med J. 2007;56(3):282–4.
Ni G, Liu W, Huang X, Zhu S, Yue X, Chen Z, et al. Increased levels of circulating SDF-1alpha and CD34+ CXCR4+ cells in patients with moyamoya disease. Eur J Neurol. 2011;18(11):1304–9.
Maruwaka M, Yoshikawa K, Okamoto S, Araki Y, Sumitomo M, Kawamura A, et al. Biomarker research for moyamoya disease in cerebrospinal fluid using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry. J Stroke Cerebrovasc Dis. 2015;24(1):104–11.
Kure S. Genetics-overview. In: Cho BK, Tominaga T, editors. Moyamoya disease update. Tokyo: Springer; 2010. p. 41–5.
Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T. Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet. 1999;64(2):533–7.
Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M. Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol. 2000;15(3):179–82.
Sakurai K, Horiuchi Y, Ikeda H, Ikezaki K, Yoshimoto T, Fukui M, et al. A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet. 2004;49(5):278–81.
Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke. 2000;31(4):930–5.
Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K, et al. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology. 2008;70(24 Pt 2):2357–63.
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011;56(1):34–40.
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One. 2011;6(7):e22542.
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 2012;78(11):803–10.
Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, et al. Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. J Hum Genet. 2012;57(12):804–6.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Kure, S. (2017). Future Clinical Perspectives on RNF213 in Moyamoya Disease. In: Koizumi, A., et al. Moyamoya Disease Explored Through RNF213. Current Topics in Environmental Health and Preventive Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-10-2711-6_15
Download citation
DOI: https://doi.org/10.1007/978-981-10-2711-6_15
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-10-2710-9
Online ISBN: 978-981-10-2711-6
eBook Packages: MedicineMedicine (R0)