Arteriosclerosis (Atherosclerosis) - Gen LPL.            

Atherosclerosis is a disease in which fatty deposits build up on artery walls. Eventually, this fatty material hardens, blocking the arteries and increasing the likelihood of having a heart attack or stroke. In general, the first symptoms of the disease appear at the level of the legs or feet, decreasing blood flow and manifesting as pain in these areas when walking and disappearing by stopping the activity (intermittent claudication). Other signs and symptoms as a result of poor arterial circulation, may include heat or reduced sensitivity to cold, high blood pressure, liver disorders and, in the case of gangrene poorly controlled diabetics.

This process is due to mutations in the LPL gene, located on the short arm of chromosome 8 (8p22). This gene encodes an enzyme called lipoprotein lipase. This enzyme is found mainly on the surface of the cells lining the capillaries within the muscle and adipose tissue. Lipoprotein lipase plays a critical role in the breakdown of fat in the form of triglycerides, which are made from various organs to the blood by lipoproteins. Lipoprotein lipase breaks down triglycerides made by two different types of lipoproteins, which bring fat from different organs into the bloodstream. Fat from the diet is transported from the intestine into the bloodstream by lipoproteins called chylomicrons. Another type of lipoprotein called very low-density lipoprotein (VLDL) transports triglycerides from the liver into the bloodstream. When lipoprotein lipase breaks down triglycerides, fat molecules are used by the body for energy or stored in adipose tissue for later use.

They have been described over 100 mutations in the LPL gene associated with a reduction or loss of LPL enzymatic activity. Variations in the LPL gene result encoding lipoprotein lipase with altered capacities to break down triglycerides. In some cases, the enzyme is overactive, leading to low levels of fat. In other cases, the enzyme deteriorates, causing an increase in fat levels, an alteration called hyperlipidemia. People with hyperlipidemia are at greater risk of developing arteriosclerosis. It is unclear to what extent LPL genetic variants play a role in the development of arteriosclerosis, since a large number of genetic and environmental factors may determine the risk of developing this complex disorder.

Tests in IVAMI: in IVAMI perform detection of mutations associated with arteriosclerosis, by complete PCR amplification of exons LPL gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).