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RNF213 as a Susceptibility Gene for Moyamoya Disease has Multifunctional Roles in Biological Processes

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Moyamoya Disease: Current Knowledge and Future Perspectives

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Abstract

RNF213 has been identified as a susceptibility gene for moyamoya disease (MMD), and a rare founder variant in RNF213 p. R4810K markedly increases the risk of MMD in East Asian populations. RNF213, a huge protein, harbors two tandem AAA+ ATPase domains and a ring finger domain. Although the physiological and pathological roles of RNF213 are largely obscure, RNF213 has been reported to be involved in various biological processes, and these processes are possibly linked to susceptibilities to several stressors. In this chapter, we review the functional properties of RNF213, focusing particularly on its variants such as p.R4810K, and the RNF213-associated susceptibilities reported in some stress models. The low penetrance of RNF213 p.R4810K, however, implies that environmental factors play an essential role in MMD development in addition to genetic predisposition. We also introduce our ongoing research and intermediate results on the environmental factors involved in RNF213-mediated MMD development.

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Acknowledgment

This study is supported by the grant, Shin-Gakujyutu funded by the Ministry of Education, Culture, Sports, Science and Technology of Japan (17H06397).

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Authors and Affiliations

  1. Department of Environmental and Molecular Medicine, Mie University Graduate School of Medicine, Tsu, Mie, Japan

    Hatasu Kobayashi

  2. Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan

    Kouji H. Harada, Yasuhisa Nakamura & Akio Koizumi

  3. Department of Food Sciences and Nutrition, School of Food Sciences and Nutrition, Mukogawa Women’s University, Nishinomiya, Hyogo, Japan

    Toshiyuki Habu & Jiyeong Kim

  4. Institute of Public Health and Welfare Research, Kyoto, Japan

    Akio Koizumi

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  1. Hatasu Kobayashi
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  2. Kouji H. Harada
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  3. Toshiyuki Habu
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  4. Yasuhisa Nakamura
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  5. Jiyeong Kim
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  6. Akio Koizumi
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Correspondence to Akio Koizumi .

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  1. Department of Neurosurgery, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan

    Satoshi Kuroda

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Kobayashi, H., Harada, K.H., Habu, T., Nakamura, Y., Kim, J., Koizumi, A. (2021). RNF213 as a Susceptibility Gene for Moyamoya Disease has Multifunctional Roles in Biological Processes. In: Kuroda, S. (eds) Moyamoya Disease: Current Knowledge and Future Perspectives. Springer, Singapore. https://doi.org/10.1007/978-981-33-6404-2_4

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  • DOI: https://doi.org/10.1007/978-981-33-6404-2_4

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