A new breakthrough study has found a gene mutation that may cause a new form of neurodegenerative disease in canines. The study was done by Professor Tosso Leeb from the University of Bern and Professor Hannes Lohi from the University of Helsinki. The University of Helsinki’s Faculty of Veterinary Medicine also took part in this study.

The breakthrough was made in the Lagotto Romagnolo dog breed, and the novel neurodegenerative disease is characterized by movement incoordination and cerebellar dysfunction. Some of the dogs also exhibited behavioral changes and abnormal eye movements. The onset of symptoms took place between 4 months to 4 years.

Genetic analysis of the affected dogs revealed a single change in nucleotides in the ATG4D gene, which functions as part of the autophagy intracellular pathway, which normally functions by degrading damaged organelles and cell components. Autophagy is also important in the maintenance of cellular functions under nutrient deprivation and other stressful conditions. The dogs affected by the disease showed altered autophagy in their brains.

ATG4D has not been linked to genetic diseases before, and could be a candidate for treating neurodegenerative disorders in human beings.

Lohi said, “Our genetic finding enables more detailed future studies to unravel the disease-causing mechanisms and to understand the role of autophagy in normal neuronal function. These results could also have a broader significance for understanding and treating neurodegenerative disorders.”

The discovery of the gene heled in developing a gene test for identifying mutation carriers and improve the breeding program for Lagotto Romagnolo dogs. PhD student Kaisa Kyöstilä, first author of the paper, said, “The genetic test not only helps in breeding decisions but can also be used for veterinary diagnostics. There are other similar neurodegenerative diseases in the breed and the genetic test can be used to get a differential diagnosis. This will also help ongoing studies in rest of the neurological disorders in the breed.”