Author/Authors :
Poda, Mehves Istanbul Üniversitesi - Deneysel Tip Arastirma Enstitüsü - Genetik Anabilim Dali, Turkey
Abstract :
Dyslipidemia may be defined as the quantitative and qualitative defects in metabolism of lipoproteins circulating in human body. The contents of the lipoproteins in the body constantly change and the phenotypes related to them show a great heterogeneity. The particles, varying in structure, function, control and phenotypes, exhibit a profoundly complex genetic mechanism. Hereditary dyslipidemias are classified under Frederickson system, taking the serum lipoprotein, cholesterol, triglyceride concentrations into consideration from the biochemical standpoint. Frederickson phenotypes (hyperlipoproteinemia, HLP) are classified as I,IIa, IIb, III, IV and V; a further classification as hypercholesterolemia, combined hyperlipidemia ve hypertriglicemia is possible. The HLP phenotypes may be categorized as monogenic, pohgemc-multifactorial and secondary depending on to their complexity. Until now, many candidate loci and their mutations are detected in association with different dyslipidemia phenotypes, thus especially the research continues on detecting new target genes and related mutations of polygenic-multifactorial phenotypes. This manuscript mainly covers the familial HLP phenotypes for their intensive genetic backgrounds.
