An Assessment Of The Current Literature On Apheresis Use In The Treatment Of Familial Hypercholesterolemia
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LDL apheresis
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Purpose of review To provide an overview about the molecular basis of familial hypercholesterolemia. Recent findings Familial hypercholesterolemia is a common hereditary cause of premature coronary heart disease. It has been estimated that 1 in every 250 individuals has heterozygous familial hypercholesterolemia and that fewer than 1% of patients with familial hypercholesterolemia have been identified across the globe. If heterozygous familial hypercholesterolemia is left untreated, it is likely that coronary heart disease will manifest clinically prior to the age of 55 years and that half of all patients will prematurely die from the consequences of myocardial infarction. It is crucial to understand the molecular basis of familial hypercholesterolemia to diagnose familial hypercholesterolemia properly. Summary The phenotype of familial hypercholesterolemia is caused by more than 1700 mutations the LDLR, apoB and PCSK9 genes, which explains approximately 85% of familial hypercholesterolemia cases. By means of next-generation sequencing, an increasing number of mutations in established and putative novel genes associated with this phenotype have been identified.
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Familial hypercholesterolemia (FH) is an autosomal dominant lipid metabolic condition that affects people from birth. Low-density lipoprotein cholesterol (LDL-C) levels are extremely high. Patients with familial hypercholesterolemia and hypercholesterolemia have a nearly two-fold increased risk of developing cardiovascular disease (CVD). LRP-1 serves as a scavenger receptor, a regulatory receptor, and a scaffold receptor. A total of 150 blood samples were taken from people, with 50 of them being patients with familial hypercholesterolemia, non-familial hypercholesterolemia, and healthy control subjects. This study aimed to measure gene expression for LRP-1 gene and mir-205 and indicating their relationship to the development of cardiovascular disease in familial hypercholesterolemia and non-familial hypercholesterolemia. Also, screening for familial hypercholesterolemia and its connection cardiovascular disease using mir-205 as a biomarker specific and sensitive for the LRP-1 gene was done. The expression of LRP-1 and mir-205 in whole blood was estimated using reverse transcriptase quantitative real time polymerase chain reaction. The results showed that the expression of LRP-1 in the fold of gene expression in F.H patients' group was lower than that of healthy group, while the expression of mir-205 in the fold of gene expression in F.H patients' group was 14 time higher than that of healthy group. The results also showed low LRP-1 expression is present in familial hypercholesterolemia and non-familial hypercholesterolemia. The familial hypercholesterolemia group was associated with the lowest expression of LRP-1 and followed by the non-familial hypercholesterolemia. This reflects an increased susceptibility to cardiovascular disease. overexpression of mir-205 is found in familial hypercholesterolemia and non-familial hypercholesterolemia. The familial hypercholesterolemia group was associated with the highest expression of mir-205 and followed by the non-familial hypercholesterolemia. This reflects that mir-205 is overexpressed in the cardiovascular system, suppressing LRP1 translation and thereby lowering LRP1 protein levels.
Scavenger Receptor
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