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News Article

Gene defect associated with severe lung disease in Airedale Terriers

Study describes a novel interstitial lung disease in dogs

A severe hereditary lung disease has been described in Airedale Terriers with a failure to thrive during the first days of life. Finnish researchers discovered the underlying gene defect in the LAMP3 gene, which may also be associated with the lung problems of certain newborn babies. Their findings are reported in PLoS Genetics.

In 2007, Finnish Airedale Terrier breeders sent puppies that had died only a few days after being born for pathological examinations to the Finnish Food Authority (previously Evira). Some litters had lost several puppies. A research project initiated under the direction of Professor Marjukka Anttila uncovered a problem in the puppies’ lungs.

“There are vacuoles, or specialised membrane-bound organelles, in the epithelial, or superficial cells of the pulmonary alveoli, which are responsible for gas exchange. They are tasked with producing a substance that reduces surface tension on the surface of these cells, essential to breathing. The vacuoles in the lungs of the dead puppies hadn’t matured normally, nor were they able to produce this surfactant,” explains doctoral candidate Kati Dillard, from the Faculty of Veterinary Medicine, University of Helsinki, and the Finnish Food Authority.

A look at the dead puppies' pedigrees revealed that the cause was an inherited disease. The gene defect underlying the disease was found to be located in the LAMP3 gene. Gene discovery fits well with the clinical picture. The gene produces a protein that functions precisely in the membranes of the vacuoles forming the surfactant.

Nearly 7,000 individual dogs representing nearly 300 different breeds were screened for the gene defect, which was only found in the Airedale Terrier breed. One-fifth of Airedale Terriers were found to be carriers of the defect. In future, carriers can be identified with genetic testing.

Similar defects in the formation of surfactant produced by the epithelial cells of pulmonary alveoli also occur in newborn babies.

“As the LAMP3 gene has not previously been associated with diseases, in the future its role in the breathing difficulties afflicting newborn babies should be investigated. This is another example of canine research that identifies a candidate gene for a human disease,” says Professor Hannes Lohi, who headed the study at the Faculty of Veterinary Medicine and the Faculty of Medicine, University of Helsinki, and the Folkhälsan Research Center.

Article: Dillard, K.J., Ochs, M., Niskanen, J.E., Arumilli, M., Donner, J., Kyöstilä, K., Hytönen, M.K., Anttila, M., Lohi, H. (2020). Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genetics 16(3):e1008651, doi: 10.1371/journal.pgen.1008651

Article details

  • Date
  • 25 March 2020
  • Source
  • University of Helsinki
  • Subject(s)
  • Dogs, Cats, and other Companion Animals