Physiological role and clinical significance of platelet apoptotis

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We examined if the Bak and Bcl-XL genes that are regulators for platelet apoptosis have mutations in patients with thrombocytopenia or thrombocytosis. The direct sequencing of these genes in patients with myelodysplastic syndrome (MDS) found 5 point mutations in the Bcl-XL gene. Transfection of each mutant gene into human cell lines did not induce cell apoptosis, suggesting no involvement of these mutations in the pathogenesis of thrombocytopenia. We also determined the sequences of Bak and Bcl-XL genes in patients with essential thrombocythemia (ET). However, no patient had mutations in these genes. These results suggest that the Bak and Bcl-XL mutations are not responsible for thrombocytopenia or thrombocytosis in hematological malignancies including MDS and ET.