A breakthrough study performed in an international collaboration led by Professor Tosso Leeb from the University of Bern and Professor Hannes Lohi from the University of Helsinki together with the veterinary neurologists and neuropathologists at the Faculty of Veterinary Medicine in the University of Helsinki has identified a gene mutation that causes a novel type of neurodegenerative disease in dogs. The results of the study shed light into the function of neurons, provide a new gene for human neurodegenration, and may aid in developing better treatments for neurodegenerative disorders. The study was published in the journal PLoS Genetics on 15.4.2015.
Finnish and Swiss investigators have made a genetic breakthrough in the Lagotto Romagnolo dog breed. The breed originates from Italy and is known for its skills in truffle hunting. These dogs have interested genetic researchers due to the existence of several rare neurological conditions in the breed. The current study revealed a novel type of neurodegenerative disease, characterized by cerebellar dysfunction and movement incoordination. Some affected dogs also suffered from abnormal eye movements and developed behavioral changes, such as restlessness and aggression. The onset of the clinical signs varies from 4 months to 4 years.
Gene discovery sheds light to a disease mechanism
Genetic analyses revealed a single nucleotide change in the ATG4D gene in affected dogs. The ATG4D gene functions as a part of an intracellular pathway called autophagy, which functions in normal cellular “cleaning” by degrading damaged cellular components and organelles. Autophagy plays also an important role in maintaining cellular functions under stressful conditions, such as nutrient deprivation. The affected Lagottos had signs of altered autophagy in the brain.
The ATG4D gene has not been previously linked to inherited diseases and represents
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