The genetic aspects of hypercholesterolemia

Abstract

Introduction: Hypercholesterolemia appears when a person swalows a big quantity of cholesterol, or it is synthetised in excess by hepatocytes. A high level of cholesterol increases the cardiovascular risk, and the incidence of myocardial and cerebral stroke. Hypercholesterolemia and overweight are caused by increased saturated fats consumption at persons with genetic idiosyncrasy and are supported by sedentariness. There is a increased production of LDL, and the genetic component is unlikely to be monogenic. The genes which are involved in appearance of hypercholesterolemia are: LDLR gene - protein that encodes LDL receptor on the hepatocytes; APOB gene - is the main component of chilomicrones and LDL, its disorder causes conformational changes of binding with LDL receptor; LDLRAP1 gene – gene that codifies pockets on the hepatocyte’s membrane and PCSK9 - controls the number of LDL receptors. The most of all (60-75%) have dose-gene effect. The most common genetic desease that causes hypercholesterolemia is familial hypercholesterolemia, an autosomal dominant pathology. There are homozygot and heterozygot forms, those homozygot being the most critical, the person don’t reach the age of 30. The diagnosis is established only by genetic analyses.

Material and methods: The purpose of this study is to appreciate the correlation between hypercholesterolemia, the apperance of vascular diseases and their connection with family history at 50 persons (19 female and 31 male) with chronic cardiac pathology.

Discussion results: An analysis of the study gives the following results: 58% of patient's relatives suffer from arterial hypertension, 12% suffer from coronarian pathology and other 12% of relatives died of vascular disease. It was observed in the medical history that the number of vascular diseases increases with aging, this is characteristic for atherosclerosis, being caused by hypercholesterolemia. Evaluating the results, the farmacological methods with statins and genic therapy are the most efficient concepts of treatment. The applicability of microorganisms like retroviruses or adenoviruses has a great potential to become a new therapy for genetic diseases.

Conclusion: 1. The genetic verification of cholesterol metabolism is very complicated and involves a lot of genes, but fenotipically the patients have the same characteristics. 2. The molecular diagnosis directs to the increased proportion of patients which begin or intensify the anticholosterol therapy, as a result, decreases the incidence of atherosclerosis at suffering population. 3. The genic therapy is a new method, with a great potential to become a new therapy for treating genetic diseases.