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International Journal of Nutrology
Articles
DOI: 10.54448/ijn23218
Submitted: 05-15-2023
Published: 05-15-2023

Family hypercholesterolemia and LDLR mutations in communities of european origin in southern Brazil: a prospective observational cohort study

Department of Internal Medicine, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil / Dr. Werutsky Clinic, Porto Alegre, Brazil
Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil / Regional Hemotherapy Center of Ribeirão Preto-HC/FMRP/USP, National Institute of Science and Technology in Stem Cells and Cell Therapy CNPq/MCT, Ribeirão Preto, Brazil
Regional Hemotherapy Center of Ribeirão Preto-HC/FMRP/USP, National Institute of Science and Technology in Stem Cells and Cell Therapy CNPq/MCT, Ribeirão Preto, Brazil
Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil / Regional Hemotherapy Center of Ribeirão Preto-HC/FMRP/USP, National Institute of Science and Technology in Stem Cells and Cell Therapy CNPq/MCT, Ribeirão Preto, Brazil
Department of Internal Medicine, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil
Familial Hypercholesterolemia Genetic polymorphism LDL receptors European Ancestry Mutation

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by high levels of circulating low-density lipoprotein (LDL) and premature coronary heart events. A quarter of the population of Southern Brazil is affected by hypercholesterolemia and the region has the highest mortality rates due to cardiovascular disease in the country. The aim of this study was to describe LDLR mutations in European descendants with FH living in Southern Brazil. Ten mL of venous blood were taken from 40 patients and used for DNA extraction and subsequent Polymerase Chain Reaction (PCR). The DNA fragments were sequenced and analyzed and the data obtained were compared to reference values from the University of California Santa Cruz (UCSC) Genome Browser. A total of 15 mutations were identified in 38 patients (95% of the total samples). These mutations were located in exons 11 (P518L) and 15 (D727G) in Italian, Portuguese and Spanish descendants and the *105T>G mutation, still undescribed, should be critically evaluated by means of mRNA alteration studies. The present study demonstrated for the first time the presence of the P518L mutation located in exon 11 of the LDLR gene in European descendants living in southern Brazil. This mutation has a high potential to be pathogenic since it is located in a domain responsible for LDLR release from the endoplasmic reticulum (ER).

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How to Cite

Werutsky, C. A., Silva Jr, W. A., Marques, A. A., Molfett, G. A. de, & Santos, J. E. dos. (2023). Family hypercholesterolemia and LDLR mutations in communities of european origin in southern Brazil: a prospective observational cohort study. International Journal of Nutrology, 16(2). https://doi.org/10.54448/ijn23218