PCSK9 in South African Variants of Familial Hypercholesterolemia

The half-life of injected PCSK9 varies as a function of the LDLR, being fast with normal levels of functional LDLR, slower with heterozygous mutant LDLR, and slowest when the LDLR is completely absent. [...]in patients, there is a good correlation between LDL-C and PCSK9 in the plasma. The pathway for LDLR internalization is not precisely the same for hepatocytes, lymphocytes, and fibroblasts. [...]the cytoplasmic adaptor protein autosomal recessive hypercholesterolemia (ARH) is required for LDLR internalization in hepatocytes and lymphocytes. [...]despite their culture experimental results, in vivo elevated levels of PCSK9 in heterozygous patients with FH may be more deleterious than in patients with non-FH.