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- W4387665623 abstract "Background: Moyamoya disease (MMD) is closely associated with the Ring Finger Protein 213 (RNF213), a susceptibility gene for this disease. However, its biological function remains unclear. We aimed to elucidate the role of RNF213 in the damage incurred by human endothelial cells under oxygen-glucose deprivation (OGD), a condition that mimics intracranial ischemia in patients with MMD. Methods: We analyzed autophagy in peripheral blood mononuclear cells (PBMCs) derived from patients carrying either RNF213 wild-type (WT) or variant (R4810K). Subsequently, human umbilical vein endothelial cells (HUVECs) were transfected with RNF213 WT (HUVECWT) or R4810K (HUVECR4810K) and exposed to OGD for 2 h to determine the role of the RNF213 variant in such a setting. Immunoblotting was used to analyze autophagy marker proteins, and tube formation assays were performed to examine endothelial function. Autophagic vesicles were observed using transmission electron microscopy. Post-OGD exposure, we administered autophagy modulators such as rapamycin and cilostazol. Results: The RNF213 variant group during post-OGD exposure (vs. pre-OGD exposure) showed autophagy inhibition, increased protein expression of SQSTM1/p62 (p < 0.0001) and LC3-II (p = 0.0039), and impaired endothelial function (p = 0.0252). HUVECR4810K during post-OGD exposure (versus pre-OGD exposure) showed a remarkable increase in autophagic vesicles. Administration of autophagy modulators notably restored the function of HUVECR4810K and cellular autophagy. Conclusions: Our findings support the pivotal role of autophagy impaired by the RNF213 variant in MMD-induced endothelial cell dysfunction and underscore the critical mechanism of autophagy leading to progressive endothelial dysfunction and MMD pathogenesis under relative ischemia within the intracranial portion." @default.
- W4387665623 created "2023-10-17" @default.
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- W4387665623 date "2023-10-16" @default.
- W4387665623 modified "2023-10-17" @default.
- W4387665623 title "RNF213 variant and autophagic impairment: A pivotal link to endothelial dysfunction in Moyamoya disease" @default.
- W4387665623 doi "https://doi.org/10.1101/2023.10.11.561969" @default.
- W4387665623 hasPublicationYear "2023" @default.
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