Peer-reviewed veterinary case report
Beta1-tubulin mutation linked to low platelets in Cavalier King
By Davis, B et al.·Published in Journal of veterinary internal medicine·2008·Department of Pathobiology, United States·View original on PubMed →
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Original publication title: Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels.
- Species:
- dog
Plain-English summary
A Cavalier King Charles Spaniel was found to have low platelet counts, a condition known as macrothrombocytopenia, which can lead to bleeding issues. Researchers discovered that a specific mutation in the beta1-tubulin gene was linked to this condition, causing instability in the dog's platelets. This mutation affects how platelets are formed in the bone marrow, potentially leading to health problems. Understanding this genetic link can help veterinarians differentiate between inherited and acquired causes of low platelet counts in dogs.
People also search for: Cavalier King Charles Spaniel low platelet count · macrothrombocytopenia in dogs · dog bleeding problems treatment
Abstract
BACKGROUND: Cavalier King Charles Spaniels (CKCS) have a high prevalence of inherited macrothrombocytopenia. The purpose of this study was to determine if a mutation in beta1-tubulin correlated with presumptive inherited macrothrombocytopenia. HYPOTHESIS: A mutation in beta1-tubulin results in synthesis of an altered beta1-tubulin monomer. alpha-beta tubulin dimers within microtubule protofilaments are unstable, resulting in altered megakaryocyte proplatelet formation. ANIMALS: Blood samples were obtained from CKCS and non-CKCS dogs. METHODS: DNA was used in polymerase chain reaction (PCR) assays to evaluate beta1-tubulin. Platelet numbers and mean platelet volume (MPV) were evaluated for a correlation with the presence or absence of a mutation identified in beta1-tubulin. Platelets obtained from homozygous, heterozygous, and clear CKCS were further evaluated using electron microscopy and immunofluorescence. RESULTS: A mutation in the gene encoding beta1-tubulin correlated with macrothrombocytopenia in CKCS. Electron microscopy and immunofluorescence studies suggest that platelet microtubules are present but most likely are unstable and decreased in number. CONCLUSIONS AND CLINICAL IMPORTANCE: The macrothrombocytopenia of CKCS correlated with a mutation in beta1-tubulin. alpha-beta tubulin dimers within protofilaments most likely are unstable, leading to altered proplatelet formation by megakaryocytes. This information will aid in distinguishing inherited from acquired thrombocytopenia. It also provides insight into the mechanism of platelet production by megakaryocytes, and also may prove useful in understanding heart-related changes in macrothrombocytopenic CKCS with concurrent mitral valve regurgitation.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18466252/