Objective: To investigate the methylation status of Zonula occludens-1 (ZO-1) gene promoter and discuss its role in the pathogenesis and progression of acute leukemia (AL) as a general gene marker.
Methods: The methylation pattern in promoter region of ZO-1 gene was detected with methylation specific PCR in AL cell lines HL60, Molt4 and NK92 as well as in 121 clinical bone marrow samples including 81 cases of AL and 40 non malignant cases.
Results: The promoter region of ZO-1 gene was completely methylated in HL60, Molt4 and NK92 cells; but it was unmethylated in 40 non malignant bone marrow samples. The total methylation frequency of ZO-1 gene promoter region in 81 cases of AL was 60.49% (49/81), there was significant statistic difference among the relapsed AL group (92.86%, 13/14), the newly diagnosed AL group (65.85%, 27/41) and the complete remission group (34.62%, 9/26), but no difference between the cases with acute myelocytic leukemia and acute lymphocytic leukemia.
Conclusion: The hypermethylated status of ZO-1 gene promoter region was specifically detected in human AL, it was closely correlated with the pathogenesis and progression of the disease and will become a general clinical molecular marker of leukemia.