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Ceullular Basis Of Missense Variants Causing Familial Hypercholesterolemia In Uae, Aseel Adnan Khalid Jawabri
Ceullular Basis Of Missense Variants Causing Familial Hypercholesterolemia In Uae, Aseel Adnan Khalid Jawabri
Biochemistry Theses
Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated levels of low-density lipoprotein (LDL) carrying cholesterol in the blood. FH is mainly caused by mutations in the gene encoding the low-density lipoprotein receptor (LDLR) which causes altered lipid metabolism. LDLR is synthesized and initially modified by glycosylation in the endoplasmic reticulum (ER) and transferred to the plasma membrane by Golgi to carry out LDL clearance from the bloodstream. Defective LDLR can, therefore, lead to increased levels of LDL in the blood which may lead to atherosclerosis and premature coronary artery diseases.
For the past few years, cardiovascular diseases have …