Genetic Test
The ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3) gene plays a crucial role in signaling pathways.
This enzyme activates vascular endothelial growth factor-C (VEGF-C) through proteolytic processing, promoting lymphangiogenesis.
A specific missense mutation (c.2786G>A) in this gene, which results in an amino acid substitution, is associated with upper airway syndrome (UAS).
This mutation is thought to impair lymphatic function, leading to fluid accumulation (edema) in tissues, causing swelling around the airway and resulting in breathing difficulties.
Disease Description
Upper airway syndrome (UAS), characterized by airway obstruction and difficulty breathing, is a common condition in certain dog breeds.
Recent research has identified a missense variant in the ADAMTS3 gene as one of the contributing causes of this syndrome.
These findings suggest that, in addition to the anatomical abnormalities seen in brachycephalic breeds, genetic factors can also play a significant role in the development of airway obstruction.
