Research around DCM and hepatitis in Dobermanns enters new phase

Dobermanns suffer from liver inflammation (hepatitis) and the heart muscle disease DCM (dilating cardiomyopathy) more often than other dog breeds. The Genetics Expert Center has been conducting research into these hereditary disorders for decades.The past year has seen progress around both of these disorders, some results of which are also of interest to human medicine.

About half of all Dobermanns develop dilating cardiomyopathy (DCM), an inherited heart disease. In this disease of the heart muscle, the muscle cells cannot squeeze together as well, causing the muscle wall to widen. This condition also occurs in humans: the disease affects 1 in 500 people.

DCM risk genes mapped

Researcher Frank van Steenbeek and his team recently identified two new risk genes for DCM in a group of more than 500 European dogs and a group of humans with DCM.Both dogs and humans with cardiomyopathies showed identical disease characteristics and mutations in the genes RNF207 and PRKAA2.The study report can be read here: (Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human).

The results of this study are important to better understand the development of DCM.In the future, this may contribute to better opportunities to diagnose or develop better therapies.

Thanks to this collaboration between University Medical Center Utrecht, Amsterdam University Medical Center, Utrecht University and several European universities, among others, the team expects to be able to offer breeders a new tool against DCM in Dobermanns. In the process, better understanding of DCM in humans has also come a little closer.

DNA test for DCM

In April, Vetscience magazine covered a new DNA test for DCM.

In it, Frank looked ahead to a DNA test: "The next step is to develop a genetic test.That would mean taking some blood or cheek mucosa and knowing if a dog has the disease variant. You can then say: we are not going to breed with these two dogs, because it gives a high risk of offspring with a dilated heart muscle.If every breeder in the Netherlands soon uses the test, we may be able to eliminate DCM altogether." Developing a genetic test need not take long, Van Steenbeek believes. "After all, we know where to look in the DNA. Possibly that test will be there as early as 2023."

The development of this test was recently completed, using the results from the above research report. The test can be requested here, through Embark Veterinary.

New research on hepatitis

Dobermanns suffer from liver inflammation (hepatitis) more often than other dog breeds, and the disease often has a fatal outcome.

Back in the 1990s, Dr. Paul Mandigers did research on Dobermann hepatitis and found that copper stacking plays an important role in the development of the disease. Dr. Hille Fieten found that the same mutations play a role in Dobermanns as in the Labrador retriever.

From previous studies, there seems to be a link between certain variations in genes important for regulation of the immune system (DLA haplotypes) Veterinarian and PhD student Christina Kijan has started analyzing the differences in these DLA haplotypes within the Dutch Dobermann population.Thus, she is trying to obtain more information about the background of hepatitis in Dobermanns.

In doing so, she collaborates with Embark Veterinary, who have called on owners of Dobermanns worldwide, to participate in the study. With the help of as many as 1,700 responses to this survey, Kijan can conduct large-scale analyses in which the genetic data of each dog can be examined, and compared.

Cardioscreening

DCM is not visible on the outside. Nevertheless, it is possible to diagnose DCM at an early stage through cardioscreening. After physical examination (including auscultation or listening to the heart), indications of heart disease may be found, such as the presence of a heart murmur or an arrhythmia. A normal physical examination does not rule out heart disease.

Therefore, an ultrasound of the heart is also done during a cardioscreening. The recommendation is to screen for DCM from the age of three years. This assessment should be performed by an experienced veterinary cardiologist. A one-time screening is not sufficient to rule out future development of DCM and therefore annual monitoring is advised. Read more about cardioscreening options at the Faculty of Veterinary Medicine here:

Financial support still needed

Further research is needed to ensure that Dobermanns no longer die prematurely from these inherited diseases.

This research depends entirely on the support and generosity of people and organizations like you. With your donation, small or large, you are making a difference to the health and future of the Dobermann. Please help!