Lipoprotein Lipase Deficiency

 

Gene: LPL (Lipoprotein lipase)

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, LPL gene; c.1315 G>A, p.(G439R), exon 8, cat chromosome B1.

Medical systems: metabolic, digestive, endocrine

Breed: Domestic Cat

Age of onset of symptoms: from birth.

A phenotype of abdominal pain, vomiting, diarrhea, chylomicronemia and a reduction in size and growth and an increase in the stillbirth rate was observed in kittens in a domestic cat colony.  The clinical signs were similar to lipoprotein lipase deficiency in humans.  An analysis of the LPL candidate gene revealed a mutation at the cause of the disease.  Symptoms can be improved with a low-fat, highly digestible diet.  In the long term, this disease can increase the risk of cardiovascular diseases such as atherosclerosis or coronary heart disease.  This genetic disease is not seen in purebred cats and the mutation involved is only very rarely seen in domestic cats.  A DNA test for the mutation is available.

 

References:

OMIA link: [1210-9685]

Anderson H, Davison S, Lytle KM, et al. (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  PLoS Genet. 16;18(6):e1009804.  [pubmed/35709088]

Kanchuk ML, Backus RC, Calvert CC, et al. (2003) Weight gain in gonadectomized normal and lipoprotein lipase-deficient male domestic cats results from increased food intake and not decreased energy expenditure. Journal of Nutrition 133:1866-74. [pubmed/12771331]

Reginato CF, Backus RC, Rogers QR. (2002) Improved growth of lipoprotein lipase deficient kittens by feeding a low-fat, highly digestible diet Journal of Nutritional Biochemistry 13:149-156. [pubmed/11893479]

Ginzinger DG, Lewis MES, Ma YH, et al. (1996) A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats Journal of Clinical Investigation 97(5):1257-1266. [pubmed/8636438]

 

Contributed by : Marie-Rose Brûlé et Sandrine Laurent, Class of 2027, Faculté de médecine vétérinaire, Université de Montréal.   (Translation DWS).