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Fatal Neonatal Interstitial Lung Disease (LAMP)

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Test Overview:

Lethal lung disease in newborn Airedale Terrier dogs is a genetic disorder caused by a recessive variant in the lysosome-associated membrane protein 3 (LAMP3) gene. This defect disrupts the maturation of surfactant-producing organelles in the lung epithelium. Surfactants, a mixture of lipids and proteins essential for life, form a thin lining film in the gas exchange compartments of the lungs, known as alveoli. They reduce surface tension, which is crucial for breathing. Surfactants are produced by vacuoles—closed sacs made of membranes containing inorganic or organic molecules such as enzymes. In affected puppies, these vacuoles do not mature properly, leading to a failure in surfactant production. This deficiency causes lethal hypoxic respiratory distress and failure within the first days or weeks of life.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

LAMP3

Variant Detected:

Chr. 34 c.1159G>A / p.(E387K) (Missense)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/32150563/

Associated Breed(s):

Airedale Terrier, Mixed Breed,

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