Published in Diabetology & Metabolic Syndrome
Type 2 diabetes mellitus (T2DM) is a complex polygenic metabolic disease characterized by elevated blood glucose. Multiple environmental and genetic factors can increase the risk of T2DM and its complications, and genetic polymorphisms are no exception. This review is mainly focused on the related genes involved in glucose metabolic, including G6PC...
Published in Molecular metabolism
G6PC2 is predominantly expressed in pancreatic islet beta cells. G6PC2 hydrolyzes glucose-6-phosphate to glucose and inorganic phosphate, thereby creating a futile substrate cycle that opposes the action of glucokinase. This substrate cycle determines the sensitivity of glucose-stimulated insulin secretion to glucose and hence regulates fasting blo...
Published in BMC Evolutionary Biology
BackgroundThe endoplasmic reticulum enzyme glucose-6-phosphatase catalyzes the common terminal reaction in the gluconeogenic/glycogenolytic pathways and plays a central role in glucose homeostasis. In most mammals, different G6PC subunits are encoded by three paralogous genes (G6PC, G6PC2, and G6PC3). Mutations in G6PC and G6PC3 are responsible for...
Published in Brenner’s Encyclopedia of Genetics
Glycogen storage diseases (GSDs) are autosomal recessive metabolic disorders resulting in storage of abnormal amounts and/or forms of glycogen. Von Gierke disease is a GSD caused by defective liver and kidney glucose-6-phosphatase activity and is named after the pathologist who first described excess glycogen storage in the liver. The disease-causi...
Published in Current Diabetes Reports
Over the past 3 years, there has been a dramatic increase in the number of confirmed type 2 diabetes (T2D) susceptibility loci, most arising through the implementation of genome-wide association studies (GWAS). However, progress toward the understanding of disease mechanisms has been slowed by modest effect sizes and the fact that most GWAS signals...
Published in Annals of Nutrition and Metabolism
Background/Aims: Fasting plasma glucose (FPG) levels correlate with cardiovascular disease and mortality in both diabetic and non-diabetic subjects. G6PC2 encodes a pancreatic islet-specific glucose-6-phosphatase-related protein and G6pc2-null mice were reported to exhibit decreased blood glucose levels. Two recent genome-wide association studies h...
Published in Diabetologia
Aims/hypothesisAn association between elevated fasting plasma glucose and the common rs560887 G allele in the G6PC2/ABCB11 locus has been reported. In Danes we aimed to examine rs560887 in relation to plasma glucose and serum insulin responses following oral and i.v. glucose loads and in relation to hepatic glucose production during a hyperinsulina...
Published in Diabetologia
Published in Diabetologia
Aims/hypothesisSingle nucleotide polymorphisms (SNPs) in G6PC2 have been reported to be associated with fasting plasma glucose level in several populations of European descent. However, whether G6PC2 variants have a similar effect in other ethnic groups is unknown. The aim of this study was to investigate the effect of common variants of G6PC2 on t...
Published in Diabetologia
Aims/hypothesisAutoimmunity to insulin, glutamic acid decarboxylase and the tyrosine-phosphatase-like protein IA-2 is associated with type 1 diabetes. The production of self-molecules in thymus and secondary lymphoid tissues is critical for self-tolerance; reduced levels may impair tolerance and predispose to autoimmunity, as shown for insulin. Alt...
