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A mutation in 5’ untranslated region of PCSK9 is related to drug response

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Year: 2018
COI code: CIGS15_337
Paper Language: English

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Authors A mutation in 5’ untranslated region of PCSK9 is related to drug response

  Maryam Hosseini moghadam - Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  Arman moradi - Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
  Shabnam Boudagh - Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  Zahra Ghaemmaghami - Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  Majid Maleki - Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  Seyed Javad Mowla - Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran

Abstract:

Introduction: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol (LDL-C) in blood, leading to an increased risk of premature cardiovascular diseases. Gain and loss of function mutations of PCSK9 have been associated to hypercholesterolemia and hypocholesterolemia, respectively. Currently, two FDA approved drugs, Repata and Praluent, inhibitors of PCSK9, administrated in some patients suffering from dyslipidemia.Material and methods: In this study, we investigated probable nucleotide changes in PCSK9 gene of 10 patients who referred to Rajaei Cardiovascular Medical and Research center because of familial hypercholesterolemia. The genomic DNA of all patients was extracted, using salting out method, and PCR amplification and Sanger sequencing was applied by specific designed oligonucleotides. Results: Our data revealed a probable pathogenic nucleotide change in 5’UTR of one patient. Although other patients have nucleotide changes in exons and introns of PCSK9 gene, they are almost belong to benign or likely benign variations. Conclusion: It has been exhibited that some dyslipidemia patients who are resistant to statin drugs have mutation in PCSK9 gene. After evaluating this variant in other family members of the patient, we conclude that nucleotide variation in 5’UTR of the PCSK9 gene may cause hypercholesterolemia in this patient who responses to Repata drug.

Keywords:

PCSK9, hypercholesterolemia, Pathogenic mutation

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COI code: CIGS15_337

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Hosseini moghadam, Maryam; Arman moradi; Shabnam Boudagh; Zahra Ghaemmaghami; Majid Maleki & Seyed Javad Mowla, 2018, A mutation in 5’ untranslated region of PCSK9 is related to drug response, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_337.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Hosseini moghadam, Maryam; Arman moradi; Shabnam Boudagh; Zahra Ghaemmaghami; Majid Maleki & Seyed Javad Mowla, 2018)
Second and more: (Hosseini moghadam; moradi; Boudagh; Ghaemmaghami; Maleki & Mowla, 2018)
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Type: Medical University
Paper No.: 2966
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