Familial Hypercholesterolemia
Familial Hypercholesterolemia Familial 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. [4] 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