-Review-

RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review

Yasuo Murai¹, Fumihiro Matano¹, Asami Kubota¹, Yohei Nounaka¹, Eitaro Ishisaka², Kazutaka Shirokane³, Kenta Koketsu³, Ryuta Nakae⁴ and Tomonori Tamaki⁵

¹Department of Neurological Surgery, Nippon Medical School Hospital, Tokyo, Japan
²Department of Neurological Surgery, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan
³Department of Neurological Surgery, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan
⁴Department of Emergency and Critical Care Medicine, Nippon Medical School Hospital, Tokyo, Japan
⁵Department of Neurological Surgery, Nippon Medical School Tama Nagayama Hospital, Tokyo, Japan

Moyamoya disease (MMD) is a cerebrovascular disorder that is predominantly observed in women of East Asian descent, and is characterized by progressive stenosis of the internal carotid artery, beginning in early childhood, and a distinctive network of collateral vessels known as "moyamoya vessels" in the basal ganglia. Additionally, a prevalent genetic variant found in most MMD cases is the p.R4810K polymorphism of RNF213 on chromosome 17q25.3. Recent studies have revealed that RNF213 mutations are associated not only with MMD, but also with other systemic vascular disorders, including intracranial atherosclerosis and systemic vascular abnormalities such as pulmonary artery stenosis and coronary artery diseases. Therefore, the concept of "RNF213-related vasculopathy" has been proposed. This review focuses on polymorphisms in the RNF213 gene and describes a wide range of clinical and genetic phenotypes associated with RNF213-related vasculopathy. The RNF213 gene has been suggested to play an important role in the pathogenesis of vascular diseases and developing new therapies. Therefore, further research and knowledge sharing through collaboration between clinicians and researchers are required.

J Nippon Med Sch 2024; 91: 140-145

Keywords
internal carotid artery, RNF213, moyamoya disease, vasculopathy

Correspondence to
Yasuo Murai, Department of Neurological Surgery, Nippon Medical School Hospital, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
ymurai@nms.ac.jp

Received, October 10, 2023
Accepted, December 13, 2023