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APOB gene study in patients with Familial Hypercholesterolemia

Grant number: 17/24857-9
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): June 01, 2018
Effective date (End): December 31, 2018
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:João Bosco Pesquero
Grantee:Agatha Ribeiro Mendes
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated research grant:14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges, AP.TEM


Familial Hypercholesterolemia (FH) is a genetic disease that increase the LDL circulating cholesterol, being a serious risk for mortality increase related to the development of cardiovascular disease, among them atherosclerosis, myocardial infarction and coronary disease. FH is mainly caused by mutations in the LDLR, APOB, PCSK9 and LDLRAP1 genes. APOB gene encodes the apolipoprotein responsible for LDL binding in its receptor, leading to cholesterol uptake in the cells. Mutations in this gene result in defects in apolipoprotein binding to the receptor, therefore causing accumulation of plasma LDL cholesterol. This apolipoprotein is also known as Apolipoprotein B-100 (ApoB-100) and in addition to binding to LDL, it participates in the structure of VLDL, LDL and IDL molecules. APOB gene encodes also the Apolipoprotein B-48 (ApoB-48), that results after messenger RNA edition. ApoB-48 acts in the absorption of cholesterol from the diet and in the formation and structure of chylomicrons. APOB gene study is very important, considering the function of its products in the control of the circulating cholesterol associated with the risk of the cardiovascular disease development. However, there are no studies investigating the genetic alterations of this gene in the Brazilian population with FH. Therefore, in this paper, our main objective is to investigate genetic variations in the APOB gene in the Brazilian population, as well as the possible impact of these variants in the development of cardiovascular disease in FH patients.