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Simvastatin in Familial Hypercholesterolemia

Author: Karim O. Al-Naffi كريم عبيس النافعي
Journal: Karbala Journal of Medicine مجلة كربلاء الطبية ISSN: 19905483 Year: 2014 Volume: 7 Issue: 1 Pages: 1733-1743
Publisher: Kerbala University جامعة كربلاء

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Abstract

background: Familial Hypercholesterolemia is hereditary disease which needs different type of treatment modalities, all are lifelong & some of it are either not promising or expensive.Aim: The aim of the study has three disciplines one is to assess the effect of simvastatin in lowering cholesterol level in patient with familial hypercholesterolemia, the second discipline is to study the use of the simvastatin in children starting from age of 4 years . The third is to monitor the expectable side effect if it happens.Patient and method: Eighteen persons of three families with consanguineous marriage, age 4 - 48 years with familial hypercholesterolemia was diagnosed in Karbala governorate at 2009 and started on dietary control & simvastatin in increasing dose up to the maximum allowed dose , they were followed between august 2009- January 2012 for clinical, biochemical response & any drug side effects. They are still under follow up.Results and Discussion: Simvastatin showed significant decrease in cholesterol level in the first six months with 20% reduction with a P value of 0.001, then the response decrease with rebound increment. There is no significant drug side effect reported neither in adults nor in the children. The result of the study is coinciding with similar studies regarding the limited effectiveness of statin in FH, also the safety of its usage in childrenConclusion: Statin usage alone is not as effective as along run treatment for FH, other treatment modalities are required; although it is save with minimal side effect even in children


Article
Genetic Polymorphisms SNP (rs5925) of LDLR Gene Associated with Familial Hypercholesterolemia in Iraqi Patients

Author: Alaa Riehan1 , Wiaam Ahmed Al-Amili 2
Journal: Iraqi Journal of Biotechnology المجلة العراقية للتقانات الحياتية ISSN: 18154794 Year: 2018 Volume: 17 Issue: 2 Pages: 75-81
Publisher: Baghdad University جامعة بغداد

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Abstract

The low density lipoprotein receptor (LDLR) allele status is the predominant hypercholesterolemia genetic risk factor. Functional single nucleotide polymorphisms (SNPs) in human LDLR gene receptors represent an excellent nominee for association with hypercholesterolemia. So, a common SNP ( c.1959T>C ; p.Val653Val , exon 13 , rs5925) in LDLR gene was studied using Real-Time PCR and restriction fragment length polymorphism (PCR-RFLP) techniques to show association between LDLR SNP with Familial hypercholesterolemia . Seventy of Familial hypercholesterolemia patients who were clinically diagnosed by physician and 30 apparently healthy individuals were conducted within this study. Blood samples were collected from all subjects after 12-14 hour fasting. Genomic DNA was extracted from blood samples and analyzed for rs5925 SNP in LDLR gene with specific primers and probes using Real-Time PCR technique. Also, genomic DNA was amplified by conventional PCR with specific primers for detection of this SNP using PCR-RFLP technique. Using two methods in identification of rs5925 SNP for LDLR gene in this study come in different performance success percentage of the methods. Where, the Real-Time PCR gave 100% performance success for all subjects, while PCR-RFLP gene gave only 64% performance success for FH patients and 70% for control group. On the other hand, when the two methods were success to be done they gave fairly close results. In Real-Time PCR and PCR-RFLP, FH patients appeared CC homozygous genotype and TC heterozygous genotype significantly higher than in control group while the control group showed significantly increasing in TT homozygous when compared with FH patients. In comparison of the allele frequencies of C and T of LDLR gene, FH patients showed that the variable allele C was higher than T allele within this group. This association may be observed between allele polymorphism and risk of FH.

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