FREE SHIPPING over $40
OVER 9000 FIVE-STAR REVIEWS
5% OFF ALL SUBSCRIPTIONS
100% HAPPINESS GUARANTEE
Analyze Diet
0
Home / Equine Research Bank / Animals (Basel) / Prevalence of the Mutations Responsible for Glanzmann Thromb...
Animals : an open access journal from MDPI2019; 9(11); doi: 10.3390/ani9110960

Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil.

Abstract: Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited disorder characterized by changes in platelet aggregation, leading to hemorrhage and epistaxis. To date, two independent mutations have been described in horses and associated with this disorder, a point mutation (c.122G > C) and a 10-base-pair deletion (g.1456_1466del) in the Integrin subunit alpha2β gene (ITGA2B) of horses of different breeds (Quarter Horse, Thoroughbred, Oldenburg, and Peruvian Paso). ITGA2B codifies the αIIb subunit of the αIIbβ3 integrin, also termed platelet fibrinogen receptor. Horses with GT have been diagnosed in the USA, Canada, Japan, and Australia. However, there are no studies on the prevalence of GT in horses. The aim of this study is to evaluate the prevalence of the mutations responsible for GT in horses in Brazil. A total of 1053 DNA samples of clinically healthy Quarter Horse (n = 679) and Warmblood horses (n = 374) were used. DNA fragments were amplified by PCR and sequenced. The genotype of each animal was analyzed and compared to the nucleotide sequence of the ITGA2B gene found on GenBankTM. There were no carriers in the analyzed samples, that is, all animals tested were wild type. Therefore, under the conditions in which this study was carried out, it can be inferred that GT seems to be extremely rare in the population of Quarter Horses and Warmbloods in Brazil, although it is not possible to affirm that there are no horses carrying mutated alleles in Brazil.
Get Full Text
Publication Date: 2019-11-13 PubMed ID: 31766112PubMed Central: PMC6912377DOI: 10.3390/ani9110960Google Scholar: Lookup
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
LinkedInCopy
  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research article focuses on exploring the frequency of Glanzmann’s thrombasthenia (GT), a rare inherited blood disorder, amongst horses in Brazil. The researchers could not identify any mutated genes linked to GT in their sample population, suggesting the condition might be extremely rare among Quarter Horses and Warmblood horses in the country.

Background and Objective

  • The study’s primary goal was centered on Glanzmann’s thrombasthenia (GT), which is an inherited disorder that affects platelet aggregation, causing bleeding and nosebleeds.
  • Existing research indicates that two mutations (c.122G > C and g.1456_1466del), found in the Integrin alpha2β gene, are associated with this disorder in various breeds of horses, including Quarter Horses, Thoroughbreds, Oldenburgs, and Peruvian Pasos.
  • While the presence of GT has been identified in horse populations in various countries (e.g., USA, Canada, Japan, and Australia), its prevalence in Brazilian horses remained unspecified, motivating the researchers to analyze the local prevalence.

Methodology

  • The researchers gathered DNA samples from 1053 clinically healthy horses: 679 Quarter Horses and 374 Warmblood horses.
  • They amplified the DNA fragments using Polymerase Chain Reaction (PCR) and then sequenced them to find any signs of these mutations.
  • The genotypes of each tested horse were compared with the nucleotide sequence of the Integrin alpha2β gene found on GenBank.

Findings

  • The researchers established that none of the analyzed samples were carriers of the GT mutations. In other words, all of the tested animals shared wild type genetics, which don’t carry these mutations.

Conclusion

  • The fact that none of the sampled horses showed signs of the key mutations linked to GT suggests that this bleeding disorder appears to be incredibly rare within the populations of Quarter Horses and Warmbloods in Brazil.
  • Despite these negating results, the researchers highlighted that their findings do not conclusively confirm that there are no GT carriers among horses in Brazil, given that only specific horse populations were included in the study.

Cite This Article

APA
Leite RO, Ferreira JF, Araújo CET, Delfiol DJZ, Takahira RK, Borges AS, Oliveira-Filho JP. (2019). Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil. Animals (Basel), 9(11). https://doi.org/10.3390/ani9110960

Publication

Animals : an open access journal from MDPI
ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 9
Issue: 11

Researcher Affiliations

Leite, Raíssa O
  • São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.
Ferreira, Júlia F
  • São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.
Araújo, César E T
  • São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.
Delfiol, Diego J Z
  • School of Veterinary Medicine, Universidade Federal de Uberlândia, 38405-320 Uberlândia, Brazil.
Takahira, Regina K
  • São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.
Borges, Alexandre S
  • São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.
Oliveira-Filho, Jose P
  • São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.

Grant Funding

  • 17/18757-1 / Fundação de Amparo à Pesquisa do Estado de São Paulo
  • master's scholarship / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Conflict of Interest Statement

The authors declare no conflict of interest.

References

This article includes 23 references
  1. Patrushev L.I.. Genetic mechanisms of hereditary hemostasis disorders.. Biochemistry 2002;67:33–46.
    pubmed: 11841338
  2. Rathgeber R.A., Brooks M.B., Bain F.T., Byars T.D.. Clinical vignette. Von Willebrand disease in a Thoroughbred mare and foal.. J. Vet. Intern. Med. 2001;15:63–66.
    doi: 10.1111/j.1939-1676.2001.tb02302.xpubmed: 11215915google scholar: lookup
  3. Norton E.M., Wooldridge A.A., Stewart A.J., Cusimano L., Schwartz D.D., Johnson C.M., Boudreaux M.K., Christopherson P.W.. Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A.. Vet. Clin. Pathol. 2016;45:96–102.
    doi: 10.1111/vcp.12315pubmed: 26765501google scholar: lookup
  4. Miura N., Senba H., Ogawa H., Sasaki N., Oishi H., Ohashi F., Takeuchi A., Usui K.. A case of equine thrombasthenia.. Nihon Juigaku Zasshi 1987;49:155–158.
    doi: 10.1292/jvms1939.49.155pubmed: 3573478google scholar: lookup
  5. Christopherson P.W., Insalaco T.A., van Santen V.L., Livesey L., Bourne C., Boudreaux M.K.. Characterization of the cDNA encoding alphaIIb and beta3 in normal horses and two horses with Glanzmann Thrombasthenia.. Vet. Pathol. 2006;43:78–82.
    doi: 10.1354/vp.43-1-78pubmed: 16407493google scholar: lookup
  6. Christopherson P.W., van Santen V.L., Livesey L., Boudreaux M.K.. A 10-base-pair deletion in the gene encoding platelet glycoprotein IIb associated with Glanzmann thrombasthenia in a horse.. J. Vet Intern. Med. 2007;21:196–198.
    doi: 10.1111/j.1939-1676.2007.tb02947.xpubmed: 17338169google scholar: lookup
  7. Fry M.M., Walker N.J., Blevins G.M., Magdesian K.G., Tablin F.. Platelet function defect in a thoroughbred filly.. J. Vet Intern. Med. 2005;19:359–362.
    doi: 10.1111/j.1939-1676.2005.tb02709.xpubmed: 15954553google scholar: lookup
  8. Livesey L., Christopherson P., Hammond A., Perkins J., Toivio-Kinnucan M., Insalaco T., Boudreaux M.K.. Platelet dysfunction (Glanzmann’s thrombasthenia) in horses.. J. Vet Intern. Med. 2005;19:917–919.
    doi: 10.1111/j.1939-1676.2005.tb02788.xpubmed: 16355691google scholar: lookup
  9. Macieira S., Lussier J., Bédard C.. Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia.. Can. J. Vet. Res. 2011;75:222–227.
    pmc: PMC3122970pubmed: 22210999
  10. George J.N., Caen J.P., Nurden A.T.. Glanzmann’ s thrombasthenia: The spectrum of clinical disease.. Blood 1990;75:1383–1395.
    doi: 10.1182/blood.V75.7.1383.1383pubmed: 2180491google scholar: lookup
  11. Sanz M.G., Wills T.B., Christopherson P., Hines M.T.. Glanzmann thrombasthenia in a 17-year-old Peruvian Paso mare.. Vet. Clin. Pathol. 2011;40:48–51.
    doi: 10.1111/j.1939-165X.2011.00289.xpubmed: 21291483google scholar: lookup
  12. Sutherland R.J., Cambridge H., Bolton J.R.. Functional and morphological studies on blood platelets in a thrombasthenic horse.. Aust. Vet. J. 1989;66:366–370.
    doi: 10.1111/j.1751-0813.1989.tb09735.xpubmed: 2515843google scholar: lookup
  13. Macieira S., Rivard G.E., Champagne J., Lavoie J.P., Bédard C.. Glanzmann thrombasthenia in an Oldenbourg filly.. Vet. Clin. Pathol. 2007;36:204–208.
    doi: 10.1111/j.1939-165X.2007.tb00211.xpubmed: 17523098google scholar: lookup
  14. Dean A.G., Sullivan K.M., Soe M.M.. OpenEpi; 2014. [(accessed on 10 October 2017)]. Open Source Epidemiologic Statistics for Public Health. Available online: https://www.openepi.com/Menu/OE_Menu.htm. .
  15. Harrison P., Mackie I., Mumford A., Briggs C., Liesner R., Winter M., Machin S.. Guidelines for the laboratory investigation of heritable disorders of platelet function.. Br. J. Haematol. 2011;155:30–44.
    doi: 10.1111/j.1365-2141.2011.08793.xpubmed: 21790527google scholar: lookup
  16. Tryon R.C., Penedo M.C., McCue M.E., Valberg S.J., Mickelson J.R., Famula T.R., Wagner M.L., Jackson M., Hamilton M.J., Nooteboom S.. Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.. J. Am. Vet. Med. Assoc. 2009;234:120–125.
    doi: 10.2460/javma.234.1.120pubmed: 19119976google scholar: lookup
  17. Badial P.R., Oliveira-Filho J.P., Pantoja J.C., Moreira J.C., Conceição L.G., Borges A.S.. Dermatological and morphological findings in quarter horses with hereditary equine regional dermal asthenia.. Vet. Dermatol. 2014;25:547–554.
    doi: 10.1111/vde.12145pubmed: 24964390google scholar: lookup
  18. Delfiol D.J.Z., Oliveira-Filho J.P., Battazza A., Souza C.P., Badial P.R., Araujo-Junior J.P., Borges A.S.. Prevalence of the hypercalemic periodic paralysis mutation in Quarter Horses in Brazil.. Cienc. Rural. 2015;45:854–857.
    doi: 10.1590/0103-8478cr20141256google scholar: lookup
  19. Delfiol D.J.Z., Oliveira-Filho J.P., Badial P.R., Battazza A., Araujo-Junior J.P., Borges A.S.. Estimation of the allele frequency of type 1 polysaccharide storage myopathy and malignant hyperthermia in Quarter Horses in Brazil.. J. Equine Vet. Sci. 2018;70:38–41.
    doi: 10.1016/j.jevs.2018.06.015google scholar: lookup
  20. Araújo C.E.T., Delfiol D.J.Z., Badial P.R., Oliveira-Filho J.P., Araujo-Junior J.P., Borges A.S.. Prevalence of the glycogen branching enzyme deficiency mutation in Quarter Horses in Brazil.. J. Equine Vet. Sci. 2018;62:81–84.
    doi: 10.1016/j.jevs.2017.10.010google scholar: lookup
  21. Dias N.M., de Andrade D.G.A., Teixeira-Neto A.R., Trinque C.M., Oliveira-Filho J.P., Winand N.J., Araújo J.P., Jr., Borges A.S.. Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil.. Vet. J. 2019;248:101–102.
    doi: 10.1016/j.tvjl.2019.05.002pubmed: 31113555google scholar: lookup
  22. McCue M.E., Ribeiro W.P., Valberg S.J.. Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders.. Equine Vet. J. Suppl. 2006;36:340–344.
    doi: 10.1111/j.2042-3306.2006.tb05565.xpubmed: 17402444google scholar: lookup
  23. Norris J.W., Pratt S.M., Auh J.H., Wilson S.J., Clutter D., Magdesian K.G., Ferraro G.L., Tablin F.. Investigation of a novel, heritable bleeding diathesis of Thoroughbred horses and development of a screening assay.. J. Vet. Intern. Med. 2006;20:1450–1456.
    doi: 10.1111/j.1939-1676.2006.tb00765.xpubmed: 17186864google scholar: lookup
Subscribe to our newsletter
Join 99,383 horse owners like you who receive our email updates on horse health and nutrition.