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Peer-reviewed veterinary case report

Phospholamban gene not mutated in large-breed dogs with heart failure

By Stabej, Polona et al.·Published in American journal of veterinary research·2005·Department of Clinical Sciences of Companion Animals, Netherlands·View original on PubMed

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Original publication title: Evaluation of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy.

Species:
dog

Plain-English summary

A group of six large-breed dogs, including Doberman Pinschers, Newfoundlands, and Great Danes, were diagnosed with dilated cardiomyopathy (DCM), a serious heart condition that can lead to congestive heart failure. Researchers looked for mutations in a specific gene thought to be linked to DCM but found no mutations in the dogs' DNA. This suggests that changes in the phospholamban gene are not a common cause of DCM in these breeds. Understanding the genetic factors behind DCM can help in managing and treating affected dogs.

People also search for: dog heart disease symptoms · dilated cardiomyopathy in Doberman Pinschers · Great Dane heart problems treatment

Abstract

OBJECTIVE: To evaluate the role of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy (DCM). ANIMALS: 6 dogs with DCM, including 2 Doberman Pinschers, 2 Newfoundlands, and 2 Great Danes. PROCEDURE: All dogs had clinical signs of congestive heart failure, and a diagnosis of DCM was made on the basis of echocardiographic findings. Blood samples were collected from each dog, and genomic DNA was isolated by a salt extraction method. Specific oligonucleotides were designed to amplify the promoter, exon 1, the 5'-part of exon 2 including the complete coding region, and part of intron 1 of the canine phospholamban gene via polymerase chain reaction procedures. These regions were screened for mutations in DNA obtained from the 6 dogs with DCM. RESULTS: No mutations were identified in the promoter, 5' untranslated region, part of intron 1, part of the 3' untranslated region, and the complete coding region of the phospholamban gene in dogs with DCM. CONCLUSIONS AND CLINICAL RELEVANCE: Results indicate that mutations in the phospholamban gene are not a frequent cause of DCM in Doberman Pinschers, Newfoundlands, and Great Danes.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/15822587/