Evaluation of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy

Stabej, Polona; Leegwater, P.A.J.; Stokhof, Arnold A.; Domanjko-Petrič, Aleksandra; Oost, B.A. van

doi:10.2460/ajvr.2005.66.432

Cited by 19 publications

(8 citation statements)

References 24 publications

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“…Phospholamban was investigated as a factor influencing DCM development in Newfoundlands, Great Danes, and Doberman Pinschers, but the results negated this possibility in these breeds (Stabej et al, 2005b). These results are in contrast with the data obtained by Lee et al (2009) who found a correlation between the down-regulation level of phospholamban and the severity of heart failure in dogs.…”

Section: Human Genetic Markers Of Heart Disease In Dogscontrasting

confidence: 58%

Genomic and genetic aspects of heart failure in dogs — A review

Łój

Garncarz

Jank

2012

Acta Veterinaria Hungarica

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The most common causes of heart failure in dogs are valvular disease, predominantly endocardiosis, and myocardial disease, predominantly dilated cardiomyopathy. They are related to changes in the expression of several genes in the heart muscle and in peripheral blood nuclear cells which could be considered as prognostic or diagnostic markers of heart disease in dogs. Since many human genetic markers of heart failure have turned out to be useless in dogs, the screening for genomic markers of canine heart failure could give more insight into the molecular pathology of these diseases and aid the development of new treatment strategies.

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Section: Human Genetic Markers Of Heart Disease In Dogscontrasting

confidence: 58%

Genomic and genetic aspects of heart failure in dogs — A review

Łój

Garncarz

Jank

2012

Acta Veterinaria Hungarica

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“…Evaluation of the desmin and delta sarcoglycan did not support a role for these genes in this disease 47,48 . In addition, the promoter and coding regions of the phospholamban gene and coding region of the actin gene have been excluded by comparison of direct sequencing results in affected and unaffected dogs 49,50 . However as more human disease variants are identified, the candidate gene approach will become increasingly fruitful for companion animal geneticists.…”

Section: Candidate Gene Approachesmentioning

confidence: 99%

Finding cardiovascular disease genes in the dog

Parker

Meurs

Ostrander

2006

Journal of Veterinary Cardiology

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Recent advances in canine genomics are changing the landscape of veterinary biology, and by default, veterinary medicine. No longer are clinicians locked into traditional methods of diagnoses and therapy. Rather major advances in canine genetics and genomics from the past five years are now changing the way the veterinarian of the 21 st century practices medicine.First, the availability of a dense genome map gives canine genetics a much needed foothold in comparative medicine, allowing advances made in human and mouse genetics to be applied to companion animals. Second, the recently released 7.5x whole genome sequence of the dog is facilitating the identification of hereditary disease genes. Finally, development of genetic tools for rapid screening of families and populations at risk for inherited disease means that the cost of identifying and testing for disease loci will significantly decrease in coming years.Out of these advances will come major changes in companion animal diagnostics and therapy. Clinicians will be able to offer their clients genetic testing and counseling for a myriad of disorders. Such advances are certain to generate healthier and more long lived dogs, improving quality of life for owner and pet alike. The clinician of the 21 st century, therefore, faces incredible opportunities as well as challenges in the management of genetic disease. In this review we summarize recent findings in canine genomics and discuss their application to the study of canine cardiac health.

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“…DCM in Doberman Pinschers is a familial disease suspected to be inherited as an autosomal dominant trait 8 . The genes responsible for this condition remain to be identified, despite the fact that several candidate genes have been evaluated 1,8–10,16–18 . Extensive remodeling, in the form of a loss of collagen tethers, increased collagen synthesis, and alterations in collagen cross‐links, occurs in the diseased myocardium.…”

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confidence: 99%

Prevalence of Dilated Cardiomyopathy in Doberman Pinschers in Various Age Groups

Wess

Schulze

Butz

et al. 2010

Journal of Veterinary Internal Medicine

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Background: Dilated cardiomyopathy (DCM) in Doberman Pinschers is an autosomal dominant inherited disease. The prevalence of DCM in Doberman Pinschers of various age groups in Europe is currently unknown, but this information would be important to develop recommendations for screening programs.Objectives: To evaluate the prevalence of cardiomyopathy in various age groups of Dobermans. Animals: Seven hundred and seventy-five examinations in 412 Doberman Pinschers. Methods: Dogs were included in a prospective longitudinal cohort study. Each examination included echocardiography and 24-hour ECG (Holter) examination. A cut-off value of 4100 ventricular premature contractions (VPCs) per 24 hours on Holter examination or abnormal echocardiography was considered diagnostic for cardiomyopathy. The cumulative prevalence included all dogs with DCM and healthy dogs 47 years of age.Results: DCM prevalence in various age groups was as follows: age group 1 (1 to o2 years) 3.3%, age group 2 (2 to o4 years) 9.9%, age group 3 (4 to o6 years) 12.5%, age group 4 (6 to o8 years) 43.6%, and age group 5 (48 years) 44.1%. The cumulative prevalence of Doberman Pinscher cardiomyopathy was 58.2%. There was an equal sex distribution, but male dogs showed earlier echocardiographic changes than did female dogs, which had significantly more VPCs.Conclusions and Clinical Importance: The prevalence of Doberman cardiomyopathy is very high in Europe. Disease manifestation and progression are different between male and female dogs. Yearly screening for DCM by Holter examination and echocardiography is recommended, starting at 2 years of age.

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Evaluation of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy

Abstract: Results indicate that mutations in the phospholamban gene are not a frequent cause of DCM in Doberman Pinschers, Newfoundlands, and Great Danes.

Cited by 19 publications

References 24 publications

Genomic and genetic aspects of heart failure in dogs — A review

Genomic and genetic aspects of heart failure in dogs — A review

Finding cardiovascular disease genes in the dog

Prevalence of Dilated Cardiomyopathy in Doberman Pinschers in Various Age Groups

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