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However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the genomes of diabetic patient group and the non-diabetic control group. [4]
Prentice et al. [17] predicted that the emerging molecular genetics field would ultimately provide a way to test between the adaptive 'thrifty gene' idea and the non-adaptive 'drifty gene' idea because it would be possible to find signatures of positive selection in the human genome, at genes that are linked to both obesity and type 2 diabetes ...
The PPARGC1A gene regulates genes involved in energy metabolism. [1] [2] Since type 2 diabetes is characterized by chronic hyperglycaemia as a result of impaired pancreatic beta cell function [3] and insulin resistance in peripheral tissues, [4] it was thought that the gene might be downregulated in type 2 diabetes patients through DNA methylation.
Maturity-onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. [1] Along with neonatal diabetes , MODY is a form of the conditions known as monogenic diabetes.
Type 2 diabetes makes up about 90% of cases of diabetes, with the other 10% due primarily to type 1 diabetes and gestational diabetes. [1] In type 1 diabetes, there is a lower total level of insulin to control blood glucose, due to an autoimmune -induced loss of insulin-producing beta cells in the pancreas .
Mutations of the gene for this enzyme can cause unusual forms of diabetes or hypoglycemia. Glucokinase (GK) is a hexokinase isozyme , related homologously to at least three other hexokinases. [ 4 ] All of the hexokinases can mediate phosphorylation of glucose to glucose-6-phosphate (G6P), which is the first step of both glycogen synthesis and ...
Beta cells (β-cells) are specialized endocrine cells located within the pancreatic islets of Langerhans responsible for the production and release of insulin and amylin. [1] Constituting ~50–70% of cells in human islets, beta cells play a vital role in maintaining blood glucose levels. [2] Problems with beta cells can lead to disorders such ...
The insulin receptor (IR) is a transmembrane receptor that is activated by insulin, IGF-I, IGF-II and belongs to the large class of receptor tyrosine kinase. [5] Metabolically, the insulin receptor plays a key role in the regulation of glucose homeostasis; a functional process that under degenerate conditions may result in a range of clinical manifestations including diabetes and cancer.