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Signalling through gap junctions contributes to control insulin secretion and, thus, blood glucose levels. Gap junctions of the insulin-producing β-cells are made of connexin 36 (Cx36), which is encoded by the  GJD2  gene. Cx36-null mice feature alterations mimicking those observed in type 2 diabetes (T2D).  GJD2  is also expressed in neurons, which share a number of common features with pancreatic β-cells. Given that a synonymous exonic single nucleotide polymorphism of human Cx36 (SNP  rs3743123 ) associates with altered function of central neurons in a subset of epileptic patients, we investigated whether this SNP also caused alterations of β-cell function. Transfection of  rs3743123  cDNA in connexin-lacking HeLa cells resulted in altered formation of gap junction plaques and cell coupling, as compared to those induced by wild type (WT)  GJD2  cDNA. Transgenic mice expressing the very same cDNAs under an insulin promoter revealed that SNP  rs3743123  expression consistently lead to a post-natal reduction of islet Cx36 levels and β-cell survival, resulting in hyperglycemia in selected lines. These changes were not observed in sex- and age-matched controls expressing WT hCx36. The variant  GJD2  only marginally associated to heterogeneous populations of diabetic patients. The data document that a silent polymorphism of  GJD2  is associated with altered β-cell function, presumably contributing to T2D pathogenesis.

A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells