KARDIOMIOPATIA ROZSTRZENIOWA U PSA DOMOWEGO – ANALIZA IN SILICO WYBRANYCH GENÓW

Abstract

Dilated cardiomyopathy (DCM) is a progressive loss of contractility of the heart muscle as the disease progresses. It causes a decrease in the heart’s minute capacity, i.e. the volume of blood pumped by the heart into the blood vessels in one minute. DCM leads to congestive heart failure and sudden death. The aim of this study was to identify in silico genes within which mutations have occurred that may cause DCM in the domestic dog (Canis lupus familiaris), to identify dog breeds at risk, and to propose breed-specific diagnostic molecular tests. For bioinformatic analyses of sequences retrieved from GenBank (NC_006587.3 – FGGY, NC_006583.3 – DCC and CM023383.1 – PDE3B) and from scientific publications (PDK4 – from patent publication number US 2011/0307965 A1 and STRN – Meurs et al. 2010), the following programs were used: Primer3 v. 0.4.0, NEBcutter v. 2.0 and BLAST. Based on literature data, domestic dog breeds such as Doberman Pinscher, Boxer, Portuguese Water Dog, Newfoundland, Irish Wolfhound and Great Dane were found to be among the breeds with the highest risk of DCM. In order to identify relevant mutations in the genes studied (FGGY, DCC, PDE3B, PDK4 and STRN) that may cause the occurrence of dilated cardiomyopathy, the use of specific restriction enzymes has been proposed in molecular diagnostic tests: BmiI for mutations in the PDK4 gene and Tth111I for SNPs in the FGGY gene (Doberman Pinscher) and TaqI for SNPs in the DCC gene and HinfI for SNPs in the PDE3B gene (Irish Wolfhound). This work, may serve as a prelude to analysis for targeted genetic testing to enable correct diagnosis of DCM in asymptomatic dogs