Epigenetics of diabetes Type 2 Since Type 2 diabetes is characterized by chronic hyperglycaemia as a result of impaired pancreatic beta cell function and insulin resistance in peripheral tissues, it was thought that the gene might be downregulated in type 2 diabetes patients through DNA methylation. The defects in pancreatic beta cell function and insulin resistance in peripheral tissues were thought to be the result of impaired ATP production from reduced oxidative phosphorylation. It was found that the mRNA expression of PPARGC1A was markedly reduced in pancreatic islets from type 2 diabetic donors compared with that of non-diabetic donors. Using bisulfite testing, it was also
Epigenetics of diabetes Type 2 the C677t mutation. This is not a spontaneous mutation; it is actually hereditary. While the mutation does not inactivate the gene, it greatly reduces the efficiency, thus impairing the formation of methionine. The lack of this amino acid prevents methylation from occurring, and as said above, hypomethylation leads to increased susceptibility to Type 2 Diabetes. Type 2 diabetes associated sequence polymorphisms have been identified in 30 linkage disequilibrium (LD) blocks across the human genome, but their effects only explain a minor fraction of the observed phenotypic diversity among individuals. Previously, in other studies it has been demonstrated that connections between