Description: The primary ciliary dyskinesia is an inherited disease that is characterized by a disorder of the motile cilia of the epithelial cells of the respiratory and reproductive tracts of male and female dogs and the epithelium of the nervous system. The disease has been observed in humans and several species of pets, including dogs.
This disease is clinically manifested by chronic infections of the respiratory tract, due to disruption of the normal microscopic structure of the motile cilia that result in reduced motility, and are unable to perform their function. Dysfunction is caused by shortening or loss of the dynein arms of the cilia. Motile cilia of the airways clear the mucous membranes, helping to remove pathogens, or dust particles or allergens. In puppies, a significant dense or purulent discharge from the nose, or a persistent strong cough, may occur shortly after birth. Respiratory problems can be very extensive and cause permanent respiratory damage.
The disease also causes reduced fertility in affected individuals, because the ciliary epithelium of the reproductive tract with impaired function insufficiently transports eggs from the ovaries to the uterus and also contributes to the reduction of sperm motility.
In Alaskan Malamutes, a causal mutation of c.43delA in the NME5 gene was detected. This mutation is associated with the absence of NME5 protein in the nasal epithelium. This mutation has not yet been detected in any other breed.
Inheritance: autosomal recessive
Mutation: c.43delA in NME5-gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Alaskan malamute
Notes: PCD in bobtails is caused by a mutation in the CCDC39 gene (p.Arg96X), this is a different analysis