Genetics: A gene of rare effect : Nature News & Comment
Nature: A gene of rare effect. Interesting discussion of #PCSK9 as a poster child for #LOF mutations
http://www.nature.com/news/genetics-a-gene-of-rare-effect-1.12773 #genetics
The woman who had this LOF mutation was identified in the large Dallas cholesterol study based on her family history.
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How did the gene exert such profound effects on LDL cholesterol levels? As researchers went on to determine, the PCSK9 protein normally circulates in the bloodstream and binds to the LDL receptor, a protein on the surface of liver cells that captures LDL cholesterol and removes it from the blood. After binding with the receptor, PCSK9 escorts it into the interior of the cell, where it is eventually degraded. When there is a lot of PCSK9 (as in the French families), there are fewer LDL receptors remaining to trap and remove bad cholesterol from the blood. When there is little or no PCSK9 (as in the black people with mutations), there are more free LDL receptors, which in turn remove more LDL cholesterol.
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