Familial hypercholesterolemia (FH) is characterized by raised serum LDL cholesterol levels, which result in excess deposition of cholesterol in tissues, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. FH is among the most commonly occurring congenital metabolic disorders with the frequency of 0.2% worldwide. FH results from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, commonly caused by a loss-of-function mutation in the LDL-receptor gene (LDLR). FH is primarily an autosomal dominant disorder with a gene–dosage effect. Homozygotes, who have two doses of the mutant gene, exhibit higher LDL levels and a more severe clinical syndrome than heterozygotes, who have one dose of the mutant gene.
At present, more than 1000 mutations in this gene are known to underlie FH. However, the array of mutations varies considerably in different populations. Many studies have shown different LDLR gene polymorphisms in different ethnic groups. In India still the exact estimate of the FH is unknown. The available techniques for identifying the number of properly working LDLR molecules are difficult and expensive too. If, FH is diagnosed in early onset of its occurrence, it can be controlled by appropriate diet and drug treatment and thus would prevent development of coronary heart disease in future. Molecular profiling and mutation analysis of the LDLR gene would be an effective tool in diagnosis of FH. Early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction.
Name: Anindita Mandal
Reg.No: 1741110014
Guide Name: Dr. Devi A
Date:21.09.12
Time: 2.30 PM
Venue: 701(B)