Cholesterol is an essential component for the functioning of living organisms. It affects the normal growth and development of the body, lipid metabolism, and the function of cell membranes. CDH is a genetic defect in cholesterol metabolism. This trait is referred to as cholesterol deficiency because it affects the ability to absorb fats. Occurs in the Holstein-Friesian breed of cattle. Newborn individuals affected by the mutation are unable to properly absorb fats with milk, resulting in stunted growth and mortality shortly after birth.
The genetic defect in cholesterol metabolism is caused by a mutation in the gene encoding the apolipoprotein B (APOB) protein on chromosome 11 (BTA11). The insertion in the DNA sequence results in the formation of a premature STOP codon, with the consequence that the translation process of the APOB protein is shortened and it is deprived of its target function.
Individuals affected by the mutation show two alleles in their genotype responsible for the defect. In this case, carriers are also burdened with the negative effects of cholesterol deficiency.
| Result | Interpretation |
| CDS | SICK |
| CDC | CARRIER |
| CDF | FREE |
REFERENCES #
- Kamiński S. & Ruść A. (2016). Cholesterol Deficiency – new genetic defect transmitted to Polish Holstein-Friesian cattle. Polish Journal of Veterinary Sciences Vol. 19, No. 4, 885–887.
- Kipp S., Segelke D., Schierenbeck S., Reinhardt F., Reents R., Wurmser C., Pausch H., Fries R., Thaller, G., Tetens J., Pott J., Piechotta M. & Grünberg W. (2015). A new Holstein haplotype affecting calf survival. Interbull Bulletin No. 49.