PCYT2-D: A Rare and Serious Disorder in the Saarlooswolfdogs

**Introduction**

The genetic health of the Saarlooswolfdog is of great interest to breeders and owners. One of the rare but serious conditions that can affect these dogs is PCYT2-D, a disease caused by a mutation in the PCYT2 gene. This article offers a brief insight into the disorder, its symptoms, hereditary pattern and the current state of research.

**What is PCYT2-D?**

PCYT2-D is a rare inherited disorder that affects the production of phosphatidylethanolamine, a crucial lipid in cell membranes. Phosphatidylethanolamine plays a vital role in the health of muscle cells. When this lipid is inadequately produced due to a mutation in the PCYT2 gene, it leads to serious health problems.

**Disease report**

The symptoms of PCYT2-D often start at a young age and worsen over time. Dogs with this condition may show retarded growth, muscle weakness and intolerance to physical exertion. As the disease progresses, this can lead to severe muscle atrophy and problems with mobility. In some cases, there is also a reduced life expectancy due to complications associated with the progressive nature of the condition.

**Inheritance**

PCYT2-D is inherited autosomal recessive. This means that both parents must be carriers of the mutated gene to pass on the disease to their offspring. Carriers themselves are completely healthy, but in a combination of two carriers, there is a 25% chance per pup of them developing the disease. This makes genetic screening very important within breeding programmes to prevent this condition.

**Research**

Research on PCYT2-D has made significant progress in the past few years. An international team of breeders & scientists has unravelled the genetic mechanism behind this disease in detail. By identifying the specific mutation in the PCYT2 gene, the research team has greatly enhanced our understanding of the disease. This offers hope for the development of future therapies that could potentially help not only dogs, but also humans with similar genetic disorders.

Thanks to the efforts of this research team, tests are now available on the market to test for PCYT2-D. These tests are available from Laboklin, and has recently been included in the breed package of VHL / Combibreed.

**A word of thanks**

We would like to express our deep appreciation to the dedicated project team that made this breakthrough possible:

– **Alexandra Windl**
Project Lead and Breeding Manager at the Deutscher Verein für Saarlooswolfhunde (DVSWH).
Her leadership and vision played a key role in successfully coordinating this project.

– **Lisa van Hoof**
Team Lead & Communications, whose multilingual skills and dedication contributed to efficient communication within the team and with the wider community.

- and everyone else on the project team

A special thanks goes to **Matthias Christen**, principal investigator at the Institute of Genetics, Vetsuisse Faculty, University of Bern, Switzerland. His scientific expertise and drive were crucial to the success of this research.

**Conclusion**

PCYT2-D is a serious genetic disorder with major health implications for affected Saarlooswolfdogs. Thanks to pioneering research, more is now known about this disease, paving the way for better / complete prevention.

We are proud to report that all Del Urlando Lupo dogs are (to date) free of the gene that causes PCYT2-D. Moreover, we have actively contributed to the study by sending blood samples from our four Saarloos wolf dogs to the research centre in Bern. This participation underlines our ongoing commitment to the health and welfare of our dogs, and our involvement in promoting the genetic health of the breed as a whole.

For more information on PCYT2-D, please refer to the official publication of the study.