Day 7 (1p32.3-1p32.1): PCSK9, cholesterol-lowering from bench to bedside

Two bags of fresh frozen plasma. The bag on the left was obtained from a patient with hypercholesterolemia. https://commons.wikimedia.org/wiki/File:Lipemic_plasma.jpg#/media/File:Lipemic_plasma.jpg

Two bags of fresh frozen plasma. The bag on the left was obtained from a patient with hypercholesterolemia.

Day 7 has 68 protein-coding genes, including PCSK9 (proprotein convertase subtilisin/kexin type 9). The PCSK9 gene was discovered in 2003 by studying families with very high cholesterol. It soon became clear that different people harbored a whole spectrum of PCSK9 variants, some of which deactivated the protein and led to low LDL and lower risk of cardiovascular disease. PCSK9 became an extraordinary case of a genetic finding leading quickly to new drugs to lower cholesterol.

Click here to see a common variant, rs11591147 (R46L), in PCSK9 – it will be flashing. Having a T instead of a G here leads to a 2-3 fold lower risk of heart disease. This mutation is found on 1-2% of European-ancestry genomes but is rare elsewhere in the world.

Leave a Comment

Filed under Uncategorized

Leave a Reply

Your email address will not be published. Required fields are marked *