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.
Highlights
Familial hypercholesterolemia (FH) is a common autosomal dominant genetic disorder leading to plasma accumulation of lowdensity lipoprotein (LDL) cholesterol in affected patients
Apolipoprotein B-100 (ApoB-100) is the protein component of LDL particles which serves as a ligand to LDL receptors
We present the first family carrying the R3527Q mutation found in Greece, further expanding the R3527Q mutation spread in Europe, with the description of the phenotype
Summary
Familial hypercholesterolemia (FH) is a common autosomal dominant genetic disorder leading to plasma accumulation of lowdensity lipoprotein (LDL) cholesterol in affected patients. It is characterized by tendon xanthomatosis and premature atherosclerosis associated with cardiovascular disease. Mutations of the LDL receptor or ApoB-100 (familial defective apolipoprotein B or FDB) may lead to defective LDL clearance and subsequent FH [1]. The patient was further tested for genetic characterization of his disease and was found to be heterozygous for the R3527Q mutation of ApoB-100 protein. Affected patients are effectively treated with statins They were asked to inform other family members for regular lipid blood testing and/or genotyping in case of dyslipidemia. Albania and FYROM (Figure 2), where the mutation has been detected
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