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The Arabic Allele: A Novel 10B Deletion in the Density Lipoprotein Receptor (LDLR) Creates A Premature Stop Codon and Severely Decreases the Expression Levels in Two Unrelated Arab Families with Familial Hypercholesterolemia.


Authors: Shawar Said, Al-Drees Mohammad, Ramadan Ahmed, Ali Najat, Al-Fadhli Suad
Abstract: Familial hyperchoolestemia (FHC) is a monogenic autosomal dominant disorder caused by defects in the low density lipoprotein receptor (LDLR). To date, more than 1000 mutation have been identified. The worldwide prevalence of heterozygous FHC is 1 in 500, and 1 in a million for the homozygous. Few reports describe FHC mutations among Arab Gulf population. In this study, we describe a noval, previously unreported deletion in the LDLR of two unrelated Arab Gulf families. Materials and methods: nineteen patients from two different families were studied using DNA sequence analysis, restriction fragment length polymorphism (RFLP), real-time (RT) PCR and flow cytometry to characterize LDLR and evaluate its expression. Result :DNA sequence analysis of the homozygote individuals (undergoing cholesterol apheresis) showed a novel 10 bp deletion in exon 12; (c.1706-1715del.ATCTCCTTCA)leading to a frame shift and premature stop codon (PSC;TGA) at position c.2084-2086. These results were confirmed using Bgl II restriction enzyme and RFLP. Also, RT-PCR revealed that LDLR mRNE in peripheral blood lymphocytes is 9.30%±6.50 and 17.9%±8.60for FHC homozygote and heterozygote individuals respectively compared to a healthy family control (100%). The low levels of mRNA correlated with the cell surface protein expression as assessed by flowcytometry. Using LDLR- specific monoclonal antibodies, we found no protein expression at the cell surface of monocytes taken from FHC homozygote persons while the monocytes of heterozygote persons shoed reduced cell surface expression compared to that of a healthy family control. Taken together, our results predict a class II LDLR mutation due to a truncated receptor that contains a dysfunctional epidermal growth factor precursor homology domain and the deletion of exons 15-18; i.e. missing the O-linked rich region, the membrane spanning, and the cytoplasmic domains. Conclusion: we identified a novel 10 bp deletion followed by a frameshift and a premature stop codo in the LDLR of two unrelated Arab families. We called this possible founder mutation the Arabic Allele’ in contrast to the Lebanese Allele. We predict a significant contribution of the Arabic Allele to the prevalence of FHC among Arabs in general and the Arab Gulf population in significant. Also, we propose that the severe down regulation of LDLR expression in these patients is due to a cryptic splicing, mRNA nonsense mediated decay and protein misfolding and ER associated degradation of the truncated receptors
Published in: The HUGO J;5(1): 270-271
URL: http://www.cags.org.ae/4th pahgc. pdf
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