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A new epilepsy gene has been found in the Lagotto Romagnolo dogs, known from their gift for truffle hunting. The gene discovery made by Professor Hannes Lohi and his research group at the University of Helsinki and the Folkhälsan Rsearch Center offers a new candidate gene for human benign childhood epilepsies. The research is to be published in the prestigious scientific journal PlosGenetics on Thursday.
Epilepsy is the most common neurological disease in children. It occurs in 0.5 percent of all 2-10 year-old children, the time when the development of the nerves in the brain is at its strongest. Childhood epilepsies are characterized by remission: the seizures set in and last for a while before they disappear completely. The mechanisms related to the remission have remained unknown.
Crucial insights
Professor Lohi and his research group say that the new gene discovery in the Lagotto Romagnolo dog breed provides new perspectives into the development of a child’s brain and the remission mechanisms in childhood epilepsies. In addition, the identified gene has enabled the development of a DNA test for the Lagotto Romagnolo breed.
“This gene discovery is significant for both dogs and humans. Every third Lagotto Romagnolo carries the gene mutation in its genome and we have now developed a gene test to be used by breeders to eliminate the disease from the breed. Furthermore, the gene has not previously been linked to human epilepsies, which makes it a new candidate gene for especially childhood epilepsies,” explains Hannes Lohi.
An epileptic seizure is caused by an electronic disturbance in brain function. Epilepsy is most common in childhood and old age.
“With this study we gain crucial insight into the pathways and mechanisms that control the development of a child’s brain, optimizing its structure for electrical stability and seizure-freedom in the rest of adult life. This study will open vast avenues of research in uncovering the molecular bases of the transformation of the brain from its immature state in infancy to its maximal abilities in adolescence and early adulthood,” says Dr. Berge Minassian, senior co-author of the study and a senior scientist and pediatric epileptologist at The Hospital for Sick Children in Toronto, Canada.
Canine DNA bank
Together with his research group Lohi has built a large canine DNA bank in Finland with over 35 000 samples from 250 breeds. The DNA bank has played an important role in the present and ongoing studies.
“We also study the epilepsies in other breeds, and several new epilepsy loci have been discovered recently. I believe that there will be more similar success stories such as the case of the truffle dogs in future. Canine epilepsies are natural, spontaneous and resemble human epilepsies, offering us a great opportunity to advance the epilepsy research for the benefit of both humans and dogs,” Lohi asserts.
Lohi’s research group operates in two campuses at the Faculties of Veterinary Medicine and Medicine at the University of Helsinki and also at the Folkhälsan Research Center. His research is funded by several sources including the Academy of Finland, the European Union, the Sigfrid Jusélius Foundation, the Finnish Cultural Foundation, the Jane and Aatos Erkko Foundation, Biocentrum Helsinki, University of Helsinki Research Funds and Folkhälsan.
YLE, University of Helsinki
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