期刊
TRENDS IN MOLECULAR MEDICINE
卷 28, 期 11, 页码 939-950出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2022.08.009
关键词
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资金
- Research Foundation Flanders (FWO) [3G0H8318]
- Ghent University Special Research Fund [01N10319]
- FWO [G0F8616N]
- Ghent University Concerted Research Action grant [BOF21/GOA/033]
- Academia Belgica, Center for History, Arts and Sciences in Rome, Italy
MMD is a rare cerebrovascular disorder with unknown etiology, and recent studies have found that immune-related responses act as the second hit to trigger MMD onset.
Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown etiology. MMD is characterized by progressive narrowing of arteries of the brain and the formation of a compensatory network of fragile vessels. Genetic studies have identified RNF213, also known as mysterin, as a susceptibility gene for MMD, but the low penetrance in genetically susceptible individuals suggests that a second hit is necessary to trigger disease onset. Recently, several molecular studies uncovered RNF213 as a key antimicrobial protein with important functions in the immune system. In addition, an increasing number of clinical reports describe the development of moyamoya angiopathy (MMA) asso-ciated with infection or autoimmune disorders. Together, this growing body of molecular and clinical evidence points towards immune-related responses as second hits to trigger MMD onset.
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