Key result
In silico analysis identified specific restriction enzymes and designed primers to enable targeted molecular diagnostic testing for dilated cardiomyopathy-associated mutations in at-risk dog breeds.
Why the study?
Dilated cardiomyopathy causes progressive loss of contractility, congestive heart failure, and sudden death, prompting in silico identification of causative mutations and breed-specific molecular tests in domestic dogs.
In silico analysis identified specific restriction enzymes that may enable targeted genetic testing for dilated cardiomyopathy in asymptomatic, at-risk dog breeds.
May facilitate molecular diagnostics in predisposed dog breeds; leaves open empirical validation before routine use.
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
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WILIM et al. (2022) studied Dilated cardiomyopathy. In silico molecular diagnostic test design (PCR-RFLP) was evaluated on Identification of specific restriction enzymes and primers for detecting DCM-associated mutations. In silico analysis identified specific restriction enzymes and designed primers to enable targeted molecular diagnostic testing for dilated cardiomyopathy-associated mutations in at-risk dog breeds.
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