Managing cardiovascular health used to be as simple as managing the associated risk factors. One commonly targeted risk factor is elevated blood cholesterol levels. Some people with high cholesterol levels are able to manage their levels by avoiding the risk factors while others require medications to control cholesterol levels. Heredity and genetics influence how high cholesterol levels are managed.
Inheriting High Cholesterol Levels
Commonly known risk factors that result in elevated cholesterol levels include diet, weight and lifestyle choices. However, in the recent decade, research is showing that cholesterol levels are also impacted by a patient’s age, gender, genetics and heredity. Knowing this information is vital for physicians. This allows them to work together with their patients to figure out the best possible way to manage cholesterol levels.
In some case lifestyle changes, which include weight loss and increased physical activity, can help lower cholesterol levels. In some case it may be necessary to include medications as a part of the cholesterol lowering treatment strategy. However, there are some cases where neither treatment strategy works. People assume in these cases that maybe the condition is related to genetics and nothing can be done about it.
Regulating Cholesterol Levels
The amount of cholesterol found in cells is regulated by complex cellular mechanisms. The mechanisms include the making of plasma membranes, bile, lipoproteins and steroids. The balance of cholesterol levels is maintained by several different proteins but there are two that are considered important; the low density lipoprotein (LDL) receptor and 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase. These proteins are important in pharmacology as they provide viable targets for cholesterol lowering drug development. For example statins target HMG-CoA reductase.
Identified Gene Mutations Related to High Cholesterol
So far researchers have identified mutations in four genes that cause elevated levels of blood cholesterol (APOB, LDLR, LDLRAP1 and the PCSK9 genes). By identifying these genes researchers are closer to finding better cholesterol lowering treatment strategies. It is important to note that only a few people have inherited elevated cholesterol levels. These are commonly brought about by a mutation on the LDLR gene. This hereditary condition is referred to as familial hypercholesterolemia. Once diagnosed, patients are treated aggressively to help lower their risk of coronary heart disease. Relatives are also screened to ensure that all carriers of the gene are treated.
Most cases of high cholesterol are not caused by hereditary factors but by lifestyle choices coupled with variations in the individual’s genes. There are genetic tests available that physicians can order to rule out familial hypercholesterolemia. It is hoped that as more about the human genome is understood, more genes that affect high cholesterol will be identified. Once identified these genes can be used a targets for drug therapies to help find a cure for high cholesterol in those individuals where diet, lifestyle choices and current medication changes are unable to control cholesterol levels.
Sources
"Hypercholesterolemia - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 20 June 2010.
