A severe hereditary lung disease has been described in Finnish Airedale terriers with a failure to thrive during the first days of lives. Finnish researchers at the University of Helsinki and elsewhere—whose findings are published in PLOS GENETICS—discovered the underlying gene defect in the LAMP3 gene, which may also be associated with the lung problems of certain newborn babies.
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 Safety Authority (Evira), the predecessor of the Finnish Food Authority. Some litters had lost several puppies.
A research project initiated at Evira 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,” lead author Kati Dillard said.
“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.”
A look at the dead puppies’ pedigrees soon revealed that the cause was an inherited disease. The gene defect underlying the disease was 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 7000 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 the help of a gene test, thus making it possible to avoid breeding combinations that give birth to sick dogs.