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Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
Common lipid signaling molecules: lysophosphatidic acid (LPA) sphingosine-1-phosphate (S1P) platelet activating factor (PAF) anandamide or arachidonoyl ethanolamine (AEA). Lipid signaling, broadly defined, refers to any biological cell signaling event involving a lipid messenger that binds a protein target, such as a receptor, kinase or phosphatase, which in turn mediate the effects of these ...
Normally, these lipids are stored as lipid droplets and are normally used for metabolism, cell signaling and trafficking of vesicles. [2] Neutral lipid storage disease is a disease that is diagnosed with the simultaneous occurrence of myopathy and/or ichthyosis. Myopathy is defined as a disease of the muscle tissue.
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, [1] also relating to sphingolipid metabolism.
Alternatively, fatty acids can be converted to lipid intermediates like diacylglycerol, ceramides and fatty acyl-CoAs. These lipid intermediates can impair cellular function, which is referred to as lipotoxicity. [2] Adipocytes, the cells that normally function as lipid store of the body, are well equipped to handle the excess lipids. Yet, too ...
Cholesterol is a cell signaling molecule that is highly regulated in eukaryotic cell membranes. [1] [2] [3] In human health, its effects are most notable in inflammation, metabolic syndrome, and neurodegeneration. [4]
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. [1] The disease has two forms: [2] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency. [3] Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in ...