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MODY 1
MODY 1 is a form of maturity onset diabetes of the young. MODY 1 is due to a loss-of-function mutation in the ''HNF4A'' (''MODY1'') gene on chromosome 12. This gene codes for hepatocyte nuclear factor 4-alpha (HNF4-α) protein also known as transcription factor 14 (TCF14). HNF4α controls function of HNF1α (see MODY 3; ) and perhaps HNF1β ( MODY 5) as well. This transcription network plays a role in the early development of the pancreas, liver, and intestines. In the pancreas these genes influence expression of, among others, the genes for insulin, the principal glucose transporter (GLUT2), and several proteins involved in glucose and mitochondrial metabolism. Although pancreatic beta cells produce adequate insulin in infancy, the capacity for insulin production declines thereafter. Diabetes (persistent hyperglycemia) typically develops by early adult years, but may not appear until later decades. The degree of insulin deficiency is slowly progressive. Many patients with MODY 1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maturity Onset Diabetes Of The Young
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. MODY is often referred to as monogenic diabetes to distinguish it from the more common types of diabetes (especially type 1 and type 2), which involve more complex combinations of causes involving multiple genes and environmental factors. MODY 2 and MODY 3 are the most common forms. Robert Tattersall and Stefan Fajans initially identified the phenomenon known as maturity onset diabetes of the young in a classic study published in the journal ''Diabetes'' in 1975. Signs and symptoms MODY is the final diagnosis in 1%–2% of people initially diagnosed with diabetes. The prevalence is 70–110 per million people. 50% of first-degree relatives will inherit the same mutation, giving them a greater than 95% lifetime risk of developing MODY themselves. For this reason, correct diagnosis of this con ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intestine
The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The GI tract contains all the major organs of the digestive system, in humans and other animals, including the esophagus, stomach, and intestines. Food taken in through the mouth is digested to extract nutrients and absorb energy, and the waste expelled at the anus as feces. ''Gastrointestinal'' is an adjective meaning of or pertaining to the stomach and intestines. Most animals have a "through-gut" or complete digestive tract. Exceptions are more primitive ones: sponges have small pores ( ostia) throughout their body for digestion and a larger dorsal pore (osculum) for excretion, comb jellies have both a ventral mouth and dorsal anal pores, while cnidarians and acoels have a single pore for both digestion and excretion. The human gastrointestinal tract consists of the esophagus, stomach, and intestines, and is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
APOA2
Apolipoprotein A-II is a protein that in humans is encoded by the ''APOA2'' gene. Function ''APOA2'' encodes apolipoprotein A-II, (ApoA-II) which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. Interactions ApoA-II has been shown to interact with phospholipid transfer protein Phospholipid transfer protein is a protein that in humans is encoded by the ''PLTP'' gene. Function The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholip .... Interactive pathway map References External links * Further reading * * * * * * * * * * * * * * * * * * * Apolipoproteins {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apolipoprotein
Apolipoproteins are proteins that bind lipids (oil-soluble substances such as fats, cholesterol and fat soluble vitamins) to form lipoproteins. They transport lipids in blood, cerebrospinal fluid and lymph. The lipid components of lipoproteins are insoluble in water. However, because of their detergent-like (amphipathic) properties, apolipoproteins and other amphipathic molecules (such as phospholipids) can surround the lipids, creating a lipoprotein particle that is itself water-soluble, and can thus be carried through body fluids (i.e., blood, lymph). In addition to stabilizing lipoprotein structure and solubilizing the lipid component, apolipoproteins interact with lipoprotein receptors and lipid transport proteins, thereby participating in lipoprotein uptake and clearance. They also serve as enzyme cofactors for specific enzymes involved in the metabolism of lipoproteins. Apolipoproteins are also exploited by hepatitis C virus (HCV) to enable virus entry, assembly, and trans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipoprotein(a)
Lipoprotein(a) is a low-density lipoprotein variant containing a protein called apolipoprotein(a). Genetic and epidemiological studies have identified lipoprotein(a) as a risk factor for atherosclerosis and related diseases, such as coronary heart disease and stroke. Lipoprotein(a) was discovered in 1963 by Kåre Berg. The human gene encoding apolipoprotein(a) was successfully cloned in 1987. Structure Lipoprotein(a) p(a)consists of an LDL-like particle and the specific apolipoprotein(a), which is bound covalently to the apoB contained in the outer shell of the particle. Lp(a) plasma concentrations are highly heritable and mainly controlled by the LPA gene located on chromosome 6q26-27. Apo(a) proteins vary in size due to a size polymorphism VNTR], which is caused by a variable number of kringle domain, kringle IV repeats in the LPA gene. This size variation at the gene level is expressed on the protein level as well, resulting in apo(a) proteins with 10 to more than 50 kringle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Triglyceride
A triglyceride (TG, triacylglycerol, TAG, or triacylglyceride) is an ester derived from glycerol and three fatty acids (from ''tri-'' and ''glyceride''). Triglycerides are the main constituents of body fat in humans and other vertebrates, as well as vegetable fat. They are also present in the blood to enable the bidirectional transference of adipose fat and blood glucose from the liver, and are a major component of human skin oils. Many types of triglycerides exist. One specific classification focuses on saturated and unsaturated types. Saturated fats have ''no'' C=C groups; unsaturated fats feature one or more C=C groups. Unsaturated fats tend to have a lower melting point than saturated analogues; as a result, they are often liquid at room temperature. Chemical structure Triglycerides are tri-esters consisting of a glycerol bound to three fatty acid molecules. Alcohols have a hydroxyl (HO–) group. Organic acids have a carboxyl (–COOH) group. Alcohols and organ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sulfonylurea
Sulfonylureas (UK: sulphonylurea) are a class of organic compounds used in medicine and agriculture, for example as antidiabetic drugs widely used in the management of diabetes mellitus type 2. They act by increasing insulin release from the beta cells in the pancreas. A number of sulfonylureas are also used as herbicides, because they can interfere with plant biosynthesis of certain amino acids. Sulfonylureas are also used experimentally to inhibit interleukin 1 beta release from the NALP3 (or NLRP3) inflammasome. Drugs * First-generation drugs include acetohexamide, carbutamide, chlorpropamide, glycyclamide (tolcyclamide), metahexamide, tolazamide and tolbutamide. * Second-generation drugs include glibenclamide (glyburide), glibornuride, gliclazide, glipizide, gliquidone, glisoxepide and glyclopyramide. * Third-generation drugs include glimepiride, although it is sometimes considered a second-generation agent. Medical uses Sulfonylureas are used primarily for the treatment of d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GLUT2
Glucose transporter 2 (GLUT2) also known as solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2) is a transmembrane carrier protein that enables protein facilitated glucose movement across cell membranes. It is the principal transporter for transfer of glucose between liver and blood Unlike GLUT4, it does not rely on insulin for facilitated diffusion. In humans, this protein is encoded by the ''SLC2A2'' gene. Tissue distribution GLUT2 is found in cellular membranes of: * liver (Primary) * pancreatic β cell (Primary in mice, tertiary in humans after GLUT1 and GLUT3) * hypothalamus (Not overly significant) * basolateral membrane of small intestine and apical GLUT2 is also suggested. * basolateral membrane of renal tubular cells Function GLUT2 has high capacity for glucose but low affinity (high ''K''M, ca. 15–20 mM) and thus functions as part of the "glucose sensor" in the pancreatic β-cells of rodents, though in human β-cells the role of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucose Transporter
Glucose transporters are a wide group of membrane proteins that facilitate the transport of glucose across the plasma membrane, a process known as facilitated diffusion. Because glucose is a vital source of energy for all life, these transporters are present in all phyla. The GLUT or SLC2A family are a protein family that is found in most mammalian cells. 14 GLUTS are encoded by human genome. GLUT is a type of uniporter transporter protein. Synthesis of free glucose Most non-autotrophic cells are unable to produce free glucose because they lack expression of glucose-6-phosphatase and, thus, are involved only in glucose uptake and catabolism. Usually produced only in hepatocytes, in fasting conditions, other tissues such as the intestines, muscles, brain, and kidneys are able to produce glucose following activation of gluconeogenesis. Glucose transport in yeast In ''Saccharomyces cerevisiae'' glucose transport takes place through facilitated diffusion. The transport proteins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver
The liver is a major Organ (anatomy), organ only found in vertebrates which performs many essential biological functions such as detoxification of the organism, and the Protein biosynthesis, synthesis of proteins and biochemicals necessary for digestion and growth. In humans, it is located in the quadrant (anatomy), right upper quadrant of the abdomen, below the thoracic diaphragm, diaphragm. Its other roles in metabolism include the regulation of Glycogen, glycogen storage, decomposition of red blood cells, and the production of hormones. The liver is an accessory digestive organ that produces bile, an alkaline fluid containing cholesterol and bile acids, which helps the fatty acid degradation, breakdown of fat. The gallbladder, a small pouch that sits just under the liver, stores bile produced by the liver which is later moved to the small intestine to complete digestion. The liver's highly specialized biological tissue, tissue, consisting mostly of hepatocytes, regulates a w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HNF4A
Hepatocyte nuclear factor 4 alpha (HNF4A) also known as NR2A1 (nuclear receptor subfamily 2, group A, member 1) is a nuclear receptor that in humans is encoded by the ''HNF4A'' gene. Function HNF-4α is a nuclear transcription factor that binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene plays a role in development of the liver, kidney, and intestines. Alternative splicing of this gene results in multiple transcript variants. HNF4A is required for the PXR and CAR-mediated transcriptional activation of CYP3A4. Genetic mutations in the ''HNF4A'' gene can influence the activity of HNF4α's downstream proteins such as CYP2D6, ''in vitro'' and ''in vivo''. The alkaloid berberine upregulates the expression of HNF4A. This gene also plays a pivotal role in the expression and synthesis of SHBG, an important glyco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancreas
The pancreas is an organ of the digestive system and endocrine system of vertebrates. In humans, it is located in the abdomen behind the stomach and functions as a gland. The pancreas is a mixed or heterocrine gland, i.e. it has both an endocrine and a digestive exocrine function. 99% of the pancreas is exocrine and 1% is endocrine. As an endocrine gland, it functions mostly to regulate blood sugar levels, secreting the hormones insulin, glucagon, somatostatin, and pancreatic polypeptide. As a part of the digestive system, it functions as an exocrine gland secreting pancreatic juice into the duodenum through the pancreatic duct. This juice contains bicarbonate, which neutralizes acid entering the duodenum from the stomach; and digestive enzymes, which break down carbohydrates, proteins, and fats in food entering the duodenum from the stomach. Inflammation of the pancreas is known as pancreatitis, with common causes including chronic alcohol use and gallstones. Becaus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
