TC-Hyperchol - Familial hypercholesterolemia (FH) - interaction of lipoprotein particles with cell membrane receptors

The development of cardiovascular diseases involves a large number of complex molecular biological processes. Among other things responsible for this are the changed number and / or a malfunction of the lipoprotein particles as well as their receptors. In this case, a positive diagnosis means the proven detection of familial hypercholesterolemia (FH) in the affected individuals. Due to a mutation in the LDL receptor, persons with FH have very high levels of circulating LDL particles and therefore cholesterol. Depending on the genetic variant (homozygous or heterozygous) and type of molecular defect, the cardiovascular disease is more or less massive and life expectancy drops massively, mostly as a result of premature onset of heart attacks, strokes and peripheral atherosclerosis. The following questions should therefore be quantitatively investigated in the context of these preliminary experiments: (1) to what extent the direct lipoprotein interaction and the cargo exchange can compensate the malfunction of the receptor before a cellular failure (cell death) occurs and (2) if a correlation between the microscopic determinable parameters of the corresponding FH-causing mutation and the corresponding cholesterol concentration, as well as blood parameters can be determined. Ultimately, our goal is to identify virtual sensors for the disease that can infer the actual critical values ??(genetic parameters, diagnosis) based on easily measurable values ??(blood values, image data of cells).