Hyperlipoproteinaemia

Hyperlipoproteinaemia is characterised by elevated concentrations of lipids or lipoproteins (especially cholesterol and triglycerides) in the blood. In humans, it is one of the most important risk factors for atherosclerosis, the complications of which - myocardial infarction, stroke or coronary artery disease - lead to serious threats to health and life. In cats, hyperlipoproteinaemia manifests itself in digestive system dysfunction (vomiting, diarrhoea, lack of appetite, abdominal pain), impaired vision and neurological problems (peripheral neuropathy).

The disease is caused by a missense mutation c.1315G>A in the LPL gene, encoding lipoprotein lipase. As a result of the lack of function of this enzyme, the body is unable to break down lipids and lipoproteins to the extent required.

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 kittens.

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References:

Ginzinger, D.G., Lewis, M.E.S., Ma, Y.H., Jones, B.R., Liu, G.Q., Jones, S.D., Hayden, M.R. : A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats Journal of Clinical Investigation 97:1257-1266, 1996. Pubmed reference: 8636438