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Clin Res Cardiol Suppl (2012) 7:2–6 DOI 10.1007/s11789-012-0041-y Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FH (FH p.W556R) Marburg Juergen R. Schaefer · Bilgen Kurt · Alexander Sattler · Günter Klaus · Muhidien Soufi Published online: 28 February 2012 © The Author(s) 2012. This article is published with open access at Springerlink.com Abstract spectively. In contrast, two affected homozygote p.W556R Objective Familial hypercholesterolemia (FH) is an auto- FH patients, in the mean time undergoing LDL apheresis, somal dominant inherited disorder caused by mutations in had no response to statin but a 15% LDL cholesterol de- the low density lipoprotein receptor (LDLR) gene. FH is crease on ezetimibe monotherapy. characterized by elevated plasma LDL cholesterol, prema- Conclusions The LDLR mutation p.W556R is a frequent ture atherosclerosis, and a high risk of premature myocar- and severe class II defect for FH. The affected homozygote dial infarction. In general, mutations within LDLR gene FH patients have a total loss of the functional LDLR and— can cause five different classes of defects, namely: class I as expected—do not respond on statin therapy and require defect: no LDLR synthesis; class II defect: no LDLR trans- LDL apheresis. In contrast, heterozygote FH patients with port; class III defect: no low density lipoprotein (LDL) to the same LDLR defect respond exceedingly well to stand- LDLR binding; class IV defect: no LDLR/LDL internaliza- ard lipid-lowering therapy, illustrating that the knowledge tion; and class V defect: no LDLR recycling. One might of the primary LDLR defect enables us to foresee the ex- expect that both the class of LDLR defect as well as the pected drug effects. precise mutation influences the severity of hypercholeste- Keywords Familial hypercholesterolemia · rolemia on one hand and the response on drug treatment on the other. To clarify this question we studied the ef- Low density lipoprotein receptor (LDLR) · Statin treatment · LDL apheresis fect of the LDLR mutation p.W556R in two heterozygote subjects. Results We found that two heterozygote FH patients with the LDLR mutation p.W556R causing a class II LDLR de- Introduction fect (transport defective LDLR) respond exceedingly well to the treatment with simvastatin 40 mg/ezetimibe 10 mg. The LDL receptor (LDLR) is an essential receptor for the There was a LDL cholesterol decrease of 55 and 64%, re- uptake of low density lipoprotein (LDL) and accounts for the clearance of 70% of all plasma-circulating LDL [1]. LDLR/LDL complexes are internalized by endocytosis, J. R. Schaefer ( ) mainly in hepatocytes and ligand dischargement in the aci- Department of Internal Medicine, Cardiology, Philipps-University, Baldingerstr.1, 35033 Marburg, dic environment of the endosome enables the recycling of Germany LDL receptors for another round of LDL binding [1–3]. e-mail: juergen.schaefer@uni-marburg.de The term “familial hypercholesterolemia” (FH) is gene- rally used for LDLR deficiency which is inherited as an B. Kurt · A. Sattler · M. Soufi Department of Internal Medicine, Cardiology, autosomal dominant trait. Homozygous LDLR deficiency is Philipps-University, Marburg, Germany rare, with a frequency of 1 per million in the general popu- lation [4, 5]. It is characterized by severely elevated LDL G. Klaus cholesterol (> 15.5 mmol/L; > 600 mg/dL). The clinical Department of General Pediatrics, Philipps-University, Marburg, Germany symptoms are xanthomas, thickened achilles tendons, caro- 1 3 LDL Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FH (FH p.W556R) 3 Marburg tis and coronary artery stenosis, and aortic valve stenosis binding. Class IV mutations produce LDL receptors with that develop in the first decade of life, leading to prema- normal transport and cell surface LDL binding but defective ture death from stroke or myocardial infarction in child- clustering in clathrin-coated pits for internalization. Finally, hood. The molecular basis of FH has been elucidated by class V mutations produce recycling defective receptors that the fundamental work of Goldstein and Brown and Rader internalize normally, but are unable to release bound ligand et al. [6, 7]. They revealed that defects of the LDL receptor within the acidic environment of the endosome, and thus do are caused by mutations within the LDL receptor gene. The not recycle to the cell surface [12] (Fig. 1a). LDLR is located on chromosome 19 [8]. Worldwide, more than 1,000 FH causing LDLR gene mutations ranging from single nucleotide substitutions to extended deletions had Methods been identified in different ethnic groups [9–11]. According to the nature and location of the mutations Lipid profiles within the LDLR gene, five different classes of FH-cau- sing mutations have been defined. Class I mutations include Lipid analysis was performed from plasma drawn under fas- null alleles with no detectable LDL receptor protein. Class ting conditions (fasting period of at least 12 h) without any II mutations produce transport-defective LDLR proteins lipid-lowering medication and was repeated after 6 weeks that are either completely (class II a) or partially blocked treatment with simvastatin 40 mg and ezetimibe 10 mg as a (class II b or leaky LDLRs) in their transport from the endo- single tablet given once daily. Total cholesterol and trigly- plasmic reticulum to the Golgi apparatus due to impaired cerides were measured enzymatically (Roche Diagnostics, glycosylation [12]. Class III mutations encode LDL recep- Mannheim, Germany). High-density lipoprotein (HDL) was tors with normal intracellular transport but defective LDL measured after the precipitation of apoB-containing lipo- Class I - V defects in FH Het. Class I or II defect in FH Note: only normal functioning LDLR appear at the cell surface (at a lesser degree) LDL LDL LDL LDL LDL LDL Class IV Class III LDL No internalization No binding Class II Golgi LDL No transport Golgi Class I
Clinical Research in Cardiology Supplements – Springer Journals
Published: Feb 28, 2012
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