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Familial Hormone Essay

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Lipids are an essential macromolecule found within the body and it has many structures and has a number of functions within the body. Cholesterol is a type of lipid, which is responsible for the structure of the plasma membrane in the cell. They provide a barrier between the cell and the cell’s external environment (Alberts, 2004). Cholesterol is moved around the body through two mechanisms: Low-density lipoproteins and high-density lipoproteins. High levels of LDH can cause cardiovascular disease, so therefore these elevations can be fatal. A genetic mutation in the LDL receptor can cause the rare genetic disorder called Familial Hypercholesterolemia. (Kingsley and Krieger, 1984). This essay will be discussing the specifics of Familial …show more content…

The structural gene for the human LDL receptor causes FH, which stimulates increased serum cholesterol levels and atherosclerosis. (Kingsley and Krieger, 1984). The most well known cause for this disorder is mutations along the gene for the LDLR protein. Furthermore, if one parent is affected by this mutation, there is a 100% chance that half of the offspring will experience a high level of LDL, in which both male and female children are equally affected (De Castro-Oros et al). One of the ways it is detected is through detection of xanthoma, which is a cholesterol rich substance that shows up in the body in many diseases like FH. The problem with this is that they occur commonly in heterozygotes of FH, but are very rare in homozygous and this substance is not specific to FH alone and can appear in people with normal lipid levels. As a result, there are no definitive tests that can diagnose FH. Some preventative measures one could take is changing their lifestyle choice, and reducing the amount of red meat they consume. (De Castro-Oros et

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Low-density lipoproteins (LDL), known as bad cholesterol, are carrier vesicles that transport cholesterol in the bloodstream. Receptor-mediated endocytosis refers to system in which these LDL bind to receptors, which engulf the ligand into the cell (Alberts, et al., 2010). A protein-coding gene called proprotein convertase subtilisin/kexin type 9 (PCSK9) helps regulate the number of low-density lipoprotein receptors (LDLR) located on the plasma membrane of a cell (Duan, et al., 2012). This, in turn, balances the amount of LDL that are released from the bloodstream via receptor-mediated endocytosis to maintain cholesterol homeostasis (Tavori, et al., 2013). Cholesterol homeostasis relies strictly on the correlated function of two proteins; LDLR and PCSK9, which can cause familial hypercholesterolemia due to function abnormalities.

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