Moyamoya Disease and Spectrums of RNF213 Vasculopathy

• Published in: Translational stroke research Vol. 11; no. 4; pp. 580 - 589
• Main Authors: Bang, Oh Young, Chung, Jong-Won, Kim, Dong Hee, Won, Hong-Hee, Yeon, Je Young, Ki, Chang-Seok, Shin, Hyung Jin, Kim, Jong-Soo, Hong, Seung Chyul, Kim, Duk-Kyung, Koizumi, Akio
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.08.2020; Springer Nature B.V
• Subjects: Adenosine Triphosphatases - genetics; Age Factors; Angiogenesis; Angioplasty; Animals; Asian people; Asymptomatic; Atherosclerosis; Biomedical and Life Sciences; Biomedicine; Cardiology; Cerebrovascular disease; Cerebrovascular Disorders - genetics; Cerebrovascular Disorders - physiopathology; Epidemiology; Genes; Genetic Predisposition to Disease; Health risks; Humans; Ischemia; Moyamoya Disease - genetics; Moyamoya Disease - physiopathology; Neurology; Neurosciences; Neurosurgery; Pediatrics; Polymorphism, Genetic; Pulmonary arteries; Review Article; Ubiquitin-Protein Ligases - genetics; Vascular Surgery; Veins & arteries; Japan; Vasculopathy; Mechanisms; Moyamoya disease; Moyamoya; Biomarkers; Genetics; Polymorphism; RNF213
• ISSN: 1868-4483; 1868-601X; 1868-601X
• DOI: 10.1007/s12975-019-00743-6

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 ( RNF213 ) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians.