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The low density lipoprotein receptor is the pathway for elimination of cholesterol from circulation in the body. Cholesterol is the molecule that forms the component of the plasma membrane. Even though, cholesterol is a key part of cellular membranes and a substrate in the steroid hormones and the synthesis of bile acid, cholesterol is also harmful if in excess. Cholesterol is a contributor to cardiovascular diseases. The LDL receptor has a role in regulating of cholesterol in the body and is useful in reducing the cardiovascular risk (Fernandes, 2006).
Treatments for Cardiovascular Disease
The LCD receptor has led to beneficial therapies, which has reduced cardiovascular diseases. The treatment has targeted the cholesterol synthetic pathway and has resulted to reduced cholesterol level. Research has shown a reduction of LDL to 70mg/dL and below results to regression of atherosclerosis. The LDL receptor genes in the human body regulate and control the amount of low density lipoprotein in the body. The low density lipoprotein receptor is responsible for regulating endocytosis of LDL in the body. The gene is located in the 19th chromosome, and the mutation occurs in the LDL receptor protein coding (Fernandes, 2006)
The LDL receptor structure is a membrane protein that has 839 amino acids. The amino acid is divided into 5 domain, that is, LDLR repeat, EGF repeat, O-linked glycosylation, membrane and Cytoplasmic domain. All the 5 domains are classified based in the functions and structural analysis. The hereditary information is stored amino acid structure of the cytoplasm (Fernandes, 2006).
Familial Hypercholesterolemia (FM) is a condition where there is a mutation of LDL receptor. It is a genetic disorder of lipoprotein metabolism. It is a rare mutation that results to defective LDL binding to LDLR. The patients of FM have a high level of plasma cholesterol, which may rise to 1500mg/dL and have a high risk of cardiovascular diseases. Familial Hypercholesterolemia is a hereditary disorder and starts at early stages of life. It causes heart attack and also contribute to Atherosclerosis (Fernandes, 2006).
The gene mutations of the LDL-receptor occur naturally in a number of classes. Class 1 mutation is when there is no synthesis of LDL receptor gene. Class 2 mutation is when there is a synthesis of LDL receptor protein, but this receptor do not reach the Golgi bodies. Class 3 mutation on the other hand occurs when the LDL receptors do not bond well on the cell surface. Class 4 mutation is when cluster at one place and do not bind to the cell (Ballantyne, 2009)
The latter stages of mutation are subdivided to purification of LDL receptor and the development of antibodies that facilitate the subdivision. The traits of FH are as a result of a number of LDL-receptor mutations. Mutation in other genes also results to inherited hypercholesterolemia, which symptoms are like that of FH (King, Jerome and Arno 131).
Research has been done to determine the relation between the mutation classes and the expression of diseases in relation of cholesterol elevation and severity of cardiovascular diseases (CVD). In the research, patients with FM but who were free from CVD were selected and investigated. The research did shown a phenotype-genotype relationship. The conclusion cannot be made because FM has to take into account the lipid related risk (King, Jerome and Arno, 2002).
Ballantyne, Christie M. Clinical Lipidology: A Companion to Braunwald’s Heart Disease. Philadelphia, PA: Saunders/Elsevier, 2009. Print.
Fernandes, J. Inborn Metabolic Diseases: Diagnosis and Treatment. Heidelberg: Springer, 2006. Internet resource.
King, Richard A, Jerome I. Rotter, and Arno G. Motulsky. The Genetic Basis of Common Diseases. Oxford: Oxford University Press, 2002. Internet resource.