First Detection of Hypercholesterolemia Causing ApoB-100 R3527Q Mutation in a Family in Greece

Abstract

Familial defective apolipoprotein B (FDB) is an autosomal dominant genetic disorder causing hypercholesterolemia in affected patients. It is occurring due to mutation of apoB gene leading to a decreased low density lipoprotein (LDL) particles clearance. The R3527Q mutation is one of the disease's causative mutations. Data support mutation's origin 6000-7000 years ago in Central Europe and its prevalence is decreasing in relation to the distance from where initially occurred. Until now, the presence of R3527Q mutation had not been confirmed in Greece. This is the first report of FDB due to R3527Q mutation in a family in Northwest Greece.

Oral Administration of The Hypercholesterol Rat Feed Formula to Making The Animal Dyslipidemia Model on Sprague Dawley Rats

“…HDL cholesterol levels in the dyslipidemic SD rat were almost the same in control SD rat. According to Chatzistefanidis et al, the main lipid fraction abnormality in dyslipidemia or hypercholesterolemic patients is an increase in total cholesterol, LDL-cholesterol, and triglycerides and a decrease in HDL-cholesterol levels [10]. Based on the results in Figure 2, all cholesterol levels in dyslipidemia rats obtained are in accordance with cholesterol levels in dyslipidemic rats, but in these dyslipidemic rats, HDL cholesterol levels did not decrease.…”

“…Dyslipidemia is a condition of high cholesterol levels in the blood, a form of autosomal dominant genetic disorder that causes the accumulation of plasma low-density lipoprotein (LDL) cholesterol in sufferers. [10]. Cholesterol level analysis data in Figure 2 shows an increase in total cholesterol and triglyceride levels in the dyslipidemic SD rats group which was significantly different at p <0.05 compared to the control SD group of rat.…”