Hypercholesterolemia is an inherited genetic disorders which causes the body to be unable to remove and regulate the amounts of low density lipoprotein (LDL).
[1] Due to its hereditary source, Familial Hypercholesterolemia usually begins at an early age, causes heart attacks and contributes to the development of Atherosclerosis.
The human body regulates concentrations of low density lipoprotein in the body using LDL receptor genes, [2] but missense mutations can sometimes occur in the coding sequences of these receptors, which would result in the formulation of the disorder, Familial Hypercholesterolemia, cardiovascular diseases, and other physical external symptoms on the outside of the body.
The low density lipoprotein receptor gene is located on the 19th chromosome and is responsible for maintaining and regulating endocytosis of low density lipoprotein (LDL) in the body. [3] But missense mutations still do occur in the coding of the LDL receptor protein, or in the Apolipoprotein B (ApoB), which is a binding factor to the LDL receptor.
Familial Hypercholesterolemia contains five classes in which they are due to LDL receptor mutations; class 1 mutations is when the LDL receptor gene is not synthesized in the first place due to missense mutations in the coding regions for the protein; class 2 mutations, the LDL receptor protein is synthesized but does not reach the Golgi apparatus from the endoplasmic reticulum; class 3 mutations, the LDL receptor is not bound properly on the cell surface; class 4 mutations occur when LDL receptors do not bind and cluster in specific areas of the cell surface used for receptor-mediated endocytosis; lastly, class 5 mutations occur when LDL receptors are not recycled to the cell surface.
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Mutations in both LDL receptor proteins and Apolipoprotein B result in different phenotypes of Familial Hypercholesterolemia and is associated with coronary heart disease, but both indicate genetic problems and other synergistic occurrences. Familial Hypercholesterolemia affects the body internally through genetic coding, but may also affect the body externally through cholesterol deposits on the skin and other parts of the body prone to the disease. These deposits occur in the eyelids, known as Xanthelasmas, which may also occur in the elbows, knees, tendons, and the iris of the eye, known as Arcus Senilis Cornae. Atherosclerosis, which contributes to the cause of cardiovascular diseases is due to the development of coronary artery diseases which hardens the walls of arteries.
The hardening of arteries causes chest pains (angina pectoris) or potentially heart attacks at a young age. The risk of Atherosclerosis increases with age and other external factors such as those who smoke, occurrence of high blood pressure, and diabetes. [5] Diseases that occur due to the mutations in coding genes usually affect the human body in drastic ways such as visible external symptoms and other complications such as receptor malfunctions, but cures and ways of preventing the missense mutations are being researched as we speak. Samples of deficient genes are now being sampled and investigated in order to find a solution to the miscoding of the genes involving the LDL receptor.
If a solution can be found in the new future, generations in the future could benefit by having the mutation corrected before hereditary effects can be initialized, therefore eliminating the disease before it develops.
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