A functional mutation of the Apoc-2 protein leads to Hyperlipoproteinemia. This disorder is characterized by increased...

A functional mutation of the Apoc-2 protein leads to Hyperlipoproteinemia. This disorder is characterized by increased lipoproteins(eg. chylomicrons) in the blood. Explain as to how a functional mutation of Apoc 2 leads to this disorder.

Expert Solution

Apoc 2 mutation lead hyperlipoproteinemia is a disease related to faulty lipid metabolism.

Apoc 2 is a cofactor for enzyme lipoprotein lipase. This enzyme is responsible for hydrolysis of triglyceride present in chylomicrons

Lipoprotein lipase is also responsible for uptake of remnants of chylomicrons.

Function of Apo c 2

Apo c 2 interacts with N and C terminal residues of lipoprotein lipase. C terminal of enzyme is responsible for substrate specificity and has a preference for triacylglyceride lipoprotein over cholestrol lipoproteins. The C terminal also plays a pivotal role in binding to LDL receptor.and hence lipid uptake

The active site of enzyme contains Serine, aspartate and histidine. They all are found in internal hydrophobic region of the enzyme which is blocked by a lid region. Once the enzyme binds to Apo c-2 and lipid the substrate becomes available to active site for lipolysis.Apo c 2 interaction with lipoprotein lipase helps in movement of the lid.

. If there will be no functionlal Apo c -2 then lipid will not reach to active site (hydrophobic groove) which remains covered by the lid region. It will adversely affect the lipolysis (lipid digestion) hence lipoprotein concentration in blood will increase.

gladiator answered 2 years ago

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