Rader - Figure 17 - Gain-of-function mutations in PCSK9 reduce LDL receptors and raise LDL-C - Strategies for Early Detection: the Role of Genetic Testing in Patients with Severe Hypercholesterolemia - Improving Outcomes in Patients with Severe Familial Hypercholesterolemia

Rader - Figure 17 - Gain-of-function mutations in PCSK9 reduce LDL receptors and raise LDL-C Text

Rader - Figure 17 - Gain-of-function mutations in PCSK9 reduce LDL receptors and raise LDL-C

As discussed above, these are missense mutations that activate PCSK9, resulting in increased degradation of the LDL receptor, reduced the LDL receptor activity in the liver, and increased levels of LDL-C in the blood.

Rader J Clin Lipidol. 2012;