LPL

The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is made primarily in fatty (adipose) tissue and in muscle. It plays a critical role in transporting fats and breaking down fat-carrying molecules called lipoproteins.

Lipoprotein lipase removes fatty substances from two types of lipoproteins: chylomicrons and very low density lipoproteins (VLDLs). After a meal, chylomicrons are formed to carry fat from the intestine into the bloodstream. VLDLs are molecules that circulate in the blood, carrying fat and cholesterol from the liver to other tissues throughout the body. Lipoprotein lipase works with another enzyme (apolipoprotein C-II) to remove fats from chylomicrons and VLDLs. The breakdown of these particles releases fat molecules for energy use or for storage in adipose tissue.

familial lipoprotein lipase deficiency - caused by mutations in the LPL gene

More than 220 mutations in the LPL gene have been found to cause familial lipoprotein lipase deficiency. The most common mutation changes a single protein building block (amino acid) in lipoprotein lipase. Specifically, the mutation replaces the amino acid glycine with the amino acid glutamic acid at position 188 in the enzyme (written as Gly188Glu or G188E). Mutations in the LPL gene reduce or eliminate the activity of lipoprotein lipase, preventing the enzyme from effectively removing fats from chylomicrons. As a result, fat-laden chylomicrons accumulate in the blood, leading to abdominal pain and the other signs and symptoms of familial lipoprotein lipase deficiency.

other disorders - associated with the LPL gene

Changes in the LPL gene have been shown to play a role in atherosclerosis, a condition in which excess fatty material is deposited in the walls of arteries. The material accumulates and hardens, blocking arteries and increasing the chance of having a heart attack or stroke. Some variants of lipoprotein lipase appear to increase the risk of developing atherosclerosis, while other forms of the enzyme seem to be protective.

Because lipoprotein lipase plays an important role in lipid transport and breakdown, researchers believe that changes in the LPL gene may also be associated with other health problems such as obesity, diabetes, and cachexia (general wasting and weight loss, often due to a chronic illness). Many factors, however, play a part in determining the risk of these complex disorders.