Genetic Test
This test screens up to three genetic variants related to the following genes:
NME5:
A member of the Nm23/NDP kinase family involved in energy metabolism and regulation of ciliary and flagellar motility.
Mutations may impair ATP utilization or protein interactions necessary for cilia movement, resulting in ciliary dysfunction.
CCDC39:
Coiled-coil domain-containing protein 39 is essential for assembly and stabilization of ciliary axonemal structures such as the outer and inner dynein arms.
Defects cause improper formation or attachment of these arms, leading to abnormal ciliary beat frequency and waveform.
STK36:
Serine/threonine-protein kinase 36 regulates the Hedgehog signaling pathway and cilia-based signaling.
It is crucial for ciliary structural integrity and motility. Mutations can cause defects in cilia formation and arrangement, sometimes resulting in impaired ependymal cilia function and hydrocephalus.
Mutations in these genes disrupt ciliary structure (including ultrastructure, dynein arms, radial spokes) and function (beating frequency, motility mechanisms), causing primary ciliary dyskinesia (PCD).
Disease Description
Primary ciliary dyskinesia (PCD) in dogs caused by mutations in NME5, CCDC39, and STK36 affects the structure and function of cilia and flagella in various tissues, including respiratory epithelium.
Cilia move mucus along the respiratory tract, enable sperm motility in males, and circulate cerebrospinal fluid within brain ventricles.
Ciliary dysfunction leads to impaired mucus clearance, causing recurrent chronic respiratory infections such as rhinitis, bronchitis, and pneumonia.
Affected dogs may also present with infertility, hydrocephalus, and situs inversus (organ reversal).
PCD is a congenital genetic disorder characterized by frequent respiratory diseases developing before adulthood.
Severe cases can progress to respiratory distress or permanent organ damage.
