CORDIS Project
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This project investigates the role of a specific genetic variant (R620W) in the PTPN22 gene on immune cell balance in type 1 diabetes. It aims to understand how this variant affects the regulation of T cells in both human subjects and mouse models, potentially leading to new therapeutic strategies.
Type 1 diabetes (T1D) is a chronic inflammatory disease, where predisposing genetic factors along with environmental influences result in loss of immunological tolerance and destruction of insulin-producing beta cells.
Genetic studies have identified three main T1D susceptibility loci, the human leukocyte antigens (HLA), insulin and most recently PTPN22, which encodes for Lyp/Pep, a lymphoid tyrosine phosphatase. A single nucleotide polymorphism (SNP) in PTPN22 at codon 620 leads to one amino-ac…
OSPEDALE SAN RAFFAELE SRL
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