Adenylate kinase locus 1 genetic polymorphism and type 2 diabetes

AK1 catalyzes the reversible reaction ATP+AMP  2ADP thus contributing to the regulation of relative concentration of these important nucleotides. Intracellular ATP is a storage of energy for cellular processes, moreover extracellular ATP together with ADP, AMP and adenosine are critical signalling molecule for sending messages to nearby cells acting on P1 and P2 receptors. AK1 shows a genetic polymorphism and recently our group has shown that the correlation between blood glucose and glycated haemoglobin in T2D is dependent on AK1 phenotype. In the present paper we have carried further studies on the relationship between AK1 phenotypes and T2D. Possible interactions with ABO blood groups and ACP1 polymorphism have also been investigated. We have re-examined the data on 280 subjects with type 2 diabetes from the White population of Penne (Central Italy). 384 consecutive healthy newborns from the same population have been also studied. A three way contingency table analysis was carried out according to Sokal and Rohlf and other statistical analyses by SPSS programs. T2D patients with AK12-1 phenotype have higher values of blood glucose level and glycated haemoglobin and an increased tendency to dyslipidemia and retinopathy. In addition there is an interaction of AK1 with ABO blood groups and with ACP1 polymorphism. The different activity between AK1 phenotypes could influence the relative concentration of ATP, ADP, AMP and adenosine with important effects on metabolic activity thus explaining the association of AK1 with clinical manifestation of T2D.