Type 1 Diabetes Risk Variants Reduce Beta Cell Function.

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Tác giả: Sarah D Atkinson, Angus G Jones, Catriona Kelly, Wiktoria Ratajczak

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Switzerland : Genes , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 732810

INTRODUCTION: The variants rs10517086 and rs1534422 are predictive of type 1 diabetes mellitus (T1DM) development and poor residual β cell function within the first year of diagnosis. However, the mechanism by which risk is conferred is unknown. We explored the impact of both variants on β cell function in vitro and assessed their relationship with C-peptide in people with T1DM and type 2 diabetes mellitus (T2DM). METHODS: Using CRISPR/Cas9, the variants were introduced into a β cell line (BRIN-BD11) and a T cell line (Jurkat cells) from which the conditioned media was applied to otherwise healthy β cells to model the inflammatory environment associated with these variants. RESULTS: Both variants significantly reduced glucose-stimulated insulin secretion, increased production of pro-inflammatory cytokines and reduced expression of several β cell markers and transcription factors ( CONCLUSIONS: These data suggest that rs1534422 and rs10517086 exert multiple insults on the β cell through excessive upregulation of
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