Rare homozygous status of P43 beta 1-tubulin polymorphism causes alterations in platelet ultrastructure

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dc.contributor.authorNavarro Nunez, Leyre
dc.contributor.authorTeruel, Raul
dc.contributor.authorIsabel Anton, Ana
dc.contributor.authorNurden, Paquita
dc.contributor.authorMartinez Martinez, Irene
dc.contributor.authorLuisa Lozano, Maria
dc.contributor.authorRivera, Jose
dc.contributor.authorCorral, Javier
dc.contributor.authorMezzano, Diego
dc.contributor.authorVicente, Vicente
dc.contributor.authorMartinez, Constantino
dc.date.accessioned2024-01-10T14:21:31Z
dc.date.available2024-01-10T14:21:31Z
dc.date.issued2011
dc.description.abstractbeta 1-tubulin is the main constituent of the platelet marginal band and studies with deficient mice showed that it maintains discoid shape and it is required for normal platelet formation. TUBB1 Q43P polymorphism is associated with decreased beta 1-tubulin expression, diminished platelet reactivity, and partial loss of discoid shape in heterozygous carriers. However, to date no studies have been carried out on homozygous PP individuals. Our study included 19 subjects genotyped for TUBB1 Q43P polymorphism (4 QQ, 4 QP, and 2 PP). The two PP individuals were recruited after genotyping of 2073 individuals. Biochemical, microscopy, and molecular studies were performed. Real-time PCR showed a similar to 40% decrease in TUBB1 mRNA in the two PP individuals compared to four QQ subjects. Western blot analysis confirmed this reduction. Electron microscopy revealed a majority of normal discoid platelets in PP individuals, although platelets with loose, re-orientated or invaginated protofilaments, and an over-developed open canalicular system were observed. Such abnormalities were not observed in QQ subjects. Morphometric analyses showed no differences between PP and QQ individuals. Immunofluorescence confirmed the presence of a normal marginal band in a majority of platelets from PP subjects. Interestingly, both PP subjects had a 40% lower platelet count than QP and QQ. TUBB1 Q43P polymorphism in homozygosity mildly affects platelet ultrastructure and our data further suggest that high levels of beta 1-tubulin might not be critical to sustain platelet discoid shape.
dc.description.funderMinisterio de Ciencia e Innovacion
dc.description.funderFundacion para la Formacion e Investigacion Sanitarias de In Region de Murcia (FFIS)
dc.description.funderEMBO
dc.description.funderISCIII
dc.description.funderFEDER
dc.description.funderFundacion Seneca
dc.fechaingreso.objetodigital2024-05-16
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1160/TH10-08-0536
dc.identifier.eissn2567-689X
dc.identifier.issn0340-6245
dc.identifier.pubmedidMEDLINE:21384078
dc.identifier.urihttps://doi.org/10.1160/TH10-08-0536
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79689
dc.identifier.wosidWOS:000290878400017
dc.information.autorucMedicina;Mezzano D ;S/I;99455
dc.issue.numero5
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final863
dc.pagina.inicio855
dc.publisherGEORG THIEME VERLAG KG
dc.revistaTHROMBOSIS AND HAEMOSTASIS
dc.rightsacceso restringido
dc.subjectPlatelet ultrastructure
dc.subjectTUBB1 Q43P polymorphism
dc.subjecthomozygosis
dc.subjectQ43P POLYMORPHISM
dc.subjectASSOCIATION
dc.subjectCOUNT
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleRare homozygous status of P43 beta 1-tubulin polymorphism causes alterations in platelet ultrastructure
dc.typeartículo
dc.volumen105
sipa.codpersvinculados99455
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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