Src kinase-associated phosphoprotein 2 (SKAP2) in type 1 diabetes

​​The gene encoding Src kinase-associated phosphoprotein 2 (SKAP2) located on Chr 7 is a type 1 diabetes (T1D) candidate gene. The project seeks to clarify if SKAP2 affects T1D risk by modulating beta cell fragility.

Type 1 Diabetes is an autoimmune disease with a strong genetic component comprising dozens of loci affecting T1D risk. Many of the genes located in T1D loci are expressed in human pancreatic islets. For this reason, genetic susceptibility to T1D may be caused by variation in genes having functional roles in the islets. In particular, such genes could affect the vulnerability of the insulin-producing beta cells to immune-mediated destruction. One T1D candidate gene which is expressed in islets and harbours a single nucleotide polymorphism associated with T1D is SKAP2. While this gene has known functions in immune cells, the role and function of SKAP2 in beta cells are unknown.

Aim

The objective of the project is to investigate if SKAP2 is involved in the regulation of cytokine-induced apoptosis and glucose-stimulated insulin secretion. Further, it will be examine if beta cell-deficiency in SKAP2 modulates diabetes development in a model of T1D.

Collaborators

Decio L. Eizirik, University of Brussels, Belgium
Alessandra K. Cardozo, University of Brussels, Belgium
Birgitte Holst, University of Copenhagen, Denmark
Henrik B. Mortensen, Copenhagen University Hospital Herlev, Denmark

Funding

The Danish Council for Independent Research.



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