Peer-reviewed veterinary case report
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia.
- Journal:
- Canadian journal of veterinary research = Revue canadienne de recherche veterinaire
- Year:
- 2011
- Authors:
- Macieira, Susana et al.
- Affiliation:
- Department of Clinical Sciences
- Species:
- horse
Plain-English summary
A horse was found to have Glanzmann thrombasthenia (GT), a genetic disorder that affects how well platelets, which help blood clot, can stick together. This condition is caused by a problem with specific proteins in the platelets. In this case, researchers discovered a specific change in the horse's genetic code that led to a faulty version of one of these proteins, which likely made it unable to function properly. The horse had two copies of this genetic change, meaning it inherited it from both parents. The findings help explain why this horse had issues with blood clotting.
Abstract
Glanzmann thrombasthenia (GT) is characterized by a defect of platelet aggregation. This autosomal recessive genetic disorder is caused by an abnormality of the platelet glycoprotein receptors alpha IIb or beta III. Recently, we identified a horse with clinical and pathological features of GT. The aim of this study was to describe this case of GT at the molecular level. A point mutation from G to C in exon 2 of ITGA2B causing a substitution of the expected amino acid arginine 72 (Arg(72)) by a proline (Pro(72)) was encountered. This amino acid change may result in abnormal structural conformations that yield an inactive alpha IIb subunit. The genomic DNA analysis showed that this horse was homozygous for the missense mutation.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/22210999/