Mutation in the PCSK9 gene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its efect on PCSK9 protein structure

Khalid Al-Waili, Ward Al Muna Al-Zidi, Abdul Rahim Al-Abri, Khalid Al-Rasadi, Hilal Ali Al-Sabti, Karna Shah, Abdullah Al-Futaisi, Ibrahim Al-Zakwani, Yajnavalka Banerjee

Research output: Contribution to journalArticle

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Abstract

Proprotein convertase subtilisin/kexin type (PCSK9) is a crucial protein in LDL cholesterol (LDL-C) metabolism by virtue of its pivotal role in the degradation of the LDL receptor. Mutations in the PCSK9 gene have previously been found to segregate with autosomal dominant familial hypercholesterolemia (ADFH). In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed for two patients with a clinical diagnosis of familial hypercholesterolemia where mutation in the LDL-receptor gene hasn't been excluded. One missense mutation was detected in the exon 9 PCSK9 gene in the two ADFH patients. Te patients were found to be heterozygote for Ile474Val (SNP rs562556). Using an array of in silico tools, we have investigated the efect of the above mutation on diferent structural levels of the PCSK9 protein. Although, the mutation has already been reported in the literature for other populations, to the best of our knowledge this is the frst report of a mutation in the PCSK9 gene from the Arab population, including the Omani population.

Original languageEnglish
Pages (from-to)48-52
Number of pages5
JournalOman Medical Journal
Volume28
Issue number1
DOIs
Publication statusPublished - 2013

Fingerprint

Hyperlipoproteinemia Type II
Mutation
LDL Receptors
Genes
Proteins
Exons
Proprotein Convertases
Population
Subtilisin
Missense Mutation
Heterozygote
DNA Sequence Analysis
Computer Simulation
LDL Cholesterol
Single Nucleotide Polymorphism

Keywords

  • Autosomal dominant hypercholesterolemia
  • Mutation
  • PCSK9 protien

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mutation in the PCSK9 gene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its efect on PCSK9 protein structure. / Al-Waili, Khalid; Al-Zidi, Ward Al Muna; Al-Abri, Abdul Rahim; Al-Rasadi, Khalid; Al-Sabti, Hilal Ali; Shah, Karna; Al-Futaisi, Abdullah; Al-Zakwani, Ibrahim; Banerjee, Yajnavalka.

In: Oman Medical Journal, Vol. 28, No. 1, 2013, p. 48-52.

Research output: Contribution to journalArticle

Al-Waili, Khalid ; Al-Zidi, Ward Al Muna ; Al-Abri, Abdul Rahim ; Al-Rasadi, Khalid ; Al-Sabti, Hilal Ali ; Shah, Karna ; Al-Futaisi, Abdullah ; Al-Zakwani, Ibrahim ; Banerjee, Yajnavalka. / Mutation in the PCSK9 gene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its efect on PCSK9 protein structure. In: Oman Medical Journal. 2013 ; Vol. 28, No. 1. pp. 48-52.
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