Michaela Zigova1, Jarmila Bernasovska1, Iveta Boronova1, Marta Mydlarova Blascakova1, Jan Kmec2,3. 1. Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Presov, Slovakia. 2. Department of Urgent Health Care, Faculty of Health Care, University of Presov, Presov, Slovakia. 3. Cardiocentre, Faculty Hospital of J.A. Reiman, Presov, Slovakia.
Abstract
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58.09±15.82 years) and 25 healthy controls in order to determine the candidate sequence variants, in the selected exons of six cardiomyopathy genes (MYBPC3, MYH7, NEBL, SCN5A, TNNI3, TNNT2), by conventional capillary-based Sanger sequencing method and standard protocols. RESULTS: Molecular genetic results confirmed the presence of 43 sequence variants in the selected exons of six cardiomyopathy genes, 58.14% of detected variants were novel. The majority of detected sequence variants were confirmed within exon 23 of MYH7 gene. Only 11 genetic alterations were predicted to be potentially pathogenic. CONCLUSIONS: In our study, we identified known and novel sequence variants in 23 unrelated patients with hypertrophic cardiomyopathy, but we did not observe any strong mutation hotspot. The results of our study assumed that exon 23 of MYH7 gene can be in potential affinity to hypertrophic cardiomyopathy in our cohort of patients. The sequence variants identified in this study may be further investigated in order to determine their functions in disease pathogenesis and improve management, diagnosis, and treatment in Slovak patients.
BACKGROUND:Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58.09±15.82 years) and 25 healthy controls in order to determine the candidate sequence variants, in the selected exons of six cardiomyopathy genes (MYBPC3, MYH7, NEBL, SCN5A, TNNI3, TNNT2), by conventional capillary-based Sanger sequencing method and standard protocols. RESULTS: Molecular genetic results confirmed the presence of 43 sequence variants in the selected exons of six cardiomyopathy genes, 58.14% of detected variants were novel. The majority of detected sequence variants were confirmed within exon 23 of MYH7 gene. Only 11 genetic alterations were predicted to be potentially pathogenic. CONCLUSIONS: In our study, we identified known and novel sequence variants in 23 unrelated patients with hypertrophic cardiomyopathy, but we did not observe any strong mutation hotspot. The results of our study assumed that exon 23 of MYH7 gene can be in potential affinity to hypertrophic cardiomyopathy in our cohort of patients. The sequence variants identified in this study may be further investigated in order to determine their functions in disease pathogenesis and improve management, diagnosis, and treatment in Slovak patients.
Authors: P Richardson; W McKenna; M Bristow; B Maisch; B Mautner; J O'Connell; E Olsen; G Thiene; J Goodwin; I Gyarfas; I Martin; P Nordet Journal: Circulation Date: 1996-03-01 Impact factor: 29.690
Authors: Roddy Walsh; Kate L Thomson; James S Ware; Birgit H Funke; Jessica Woodley; Karen J McGuire; Francesco Mazzarotto; Edward Blair; Anneke Seller; Jenny C Taylor; Eric V Minikel; Daniel G MacArthur; Martin Farrall; Stuart A Cook; Hugh Watkins Journal: Genet Med Date: 2016-08-17 Impact factor: 8.822
Authors: Luis R Lopes; Anna Zekavati; Petros Syrris; Mike Hubank; Claudia Giambartolomei; Chrysoula Dalageorgou; Sharon Jenkins; William McKenna; Vincent Plagnol; Perry M Elliott Journal: J Med Genet Date: 2013-02-08 Impact factor: 6.318