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As of 2011 more than 36 genes have been found that contribute to the risk of type 2 diabetes. [2] All of these genes together still only account for 10% of the total genetic component of the disease. [2] There are a number of rare cases of diabetes that arise due to an abnormality in a single gene (known as monogenic forms of diabetes). [1]
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.
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Glucagon is a peptide hormone, produced by alpha cells of the pancreas. It raises the concentration of glucose and fatty acids in the bloodstream and is considered to be the main catabolic hormone of the body. It is also used as a medication ...
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 ...
Rodents have two functional insulin genes; one is the homolog of most mammalian genes (Ins2), and the other is a retroposed copy that includes promoter sequence but that is missing an intron (Ins1). [27] Transcription of the insulin gene increases in response to elevated blood glucose. [28]
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.
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as ...
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