Lipid malabsorption (ILM) in Australian Kelpies

Lipid malabsorption is a disorder of fat absorption by the intestinal mucosa. The disease manifests itself in young dogs that are stunted in stature and suffer from steatorrhea (fatty stools containing excessive amounts of fat) or bloating. The condition leads to inflammation of the small intestine and abscesses. Another manifestation of the disease is a poor-quality rough coat.

ILM in Australian Kelpies is caused by mutation g.23380074_23483377del in the ACSL5 gene, which encodes acyl-CoA synthetase of long-chain fatty acids.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

O'Brien, M.J., Beijerink, N.J., Sansom, M., Thornton, S.W., Chew, T., Wade, C.M. : A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed. Sci Rep 10:18223, 2020.