Supplementary key words low density lipoprotein • genetics • cholesterol metabolism • diseases/dyslipidemia • gene expression/polymorphisms • genes in lipid dysfunction • low density lipoprotein/assembly • low density lipoprotein cholesterol • familial hypercholesterolemia • single nucleotide polymorphism • microsomal triglyceride transfer protein Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by a high LDL cholesterol (LDLc) content in the serum. FH occurs in one in 250500 in heterozygous (HTZ) form and one in a million in homozygous (HMZ) form (1). In most cases, the disorder results from mutations in the LDL receptor (LDLR) gene. Mutations in the APOB-100 gene and the recently identified proprotein convertase subtilisin/kexin type 9 (PCSK9) gene result in phenocopies of the disease (2). Over a thousand different mutations in LDLR have been recorded to date. Owing to the high content of LDL in the blood, this disorder predisposes patients to early atherosclerosis, premature coronary heart disease, cerebrovascular accidents, calcification of cardiac valves leading to their dysfunction, and even early death. It is thought that at least 5% of all early myocardial infarctions are in FH individuals. Although FH is caused by mutations in single genes, individuals with FH show striking phenotypic variability.
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