title: Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.
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. The patients were found to be heterozygote for Ile474Val (SNP rs562556). Using an array of in silico tools, we have investigated the effect of the above mutation on different 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 first report of a mutation in the PCSK9 gene from the Arab population, including the Omani population.
authors: Department of Clinical Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman.
authors: Khalid
authors: K
authors: Al-Waili
authors: Ward Al-Muna
authors: WA
authors: Al-Zidi
authors: Abdul Rahim
authors: AR
authors: Al-Abri
authors: Khalid
authors: K
authors: Al-Rasadi
authors: Hilal Ali
authors: HA
authors: Al-Sabti
authors: Karna
authors: K
authors: Shah
authors: Abdullah
authors: A
authors: Al-Futaisi
authors: Ibrahim
authors: I
authors: Al-Zakwani
authors: Yajnavalka
authors: Y
authors: Banerjee
keywords: Autosomal dominant hypercholesterolemia; Mutation; PCSK9 protien
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