Expression level of sperm-associated antigen 6 and its gene promoter methylation status in myelodysplastic syndrome patients

Abstract

Objective To investigate the association between sperm-associated antigen 6 (SPAG6) expression level and the clinical parameters of patients with myelodysplastic syndrome (MDS) and explore how SPAG6 gene promoter methylation status regulates SPAG6 transcription. Methods Bone marrow mononuclear cells (BMMNCs) were collected from 18 patients with MDS or MDS-acute myeloid leukemia (MDS-AML) and 20 healthy control subjects for detection of SPAG6 expression using RT-qPCR and Western blotting. The methylation status of SPAG6 promoter in patients with MDS and the healthy controls was assessed using methylation-specific PCR (MS-PCR). The correlation of SPAG6 promoter methylation status and SPAG6 expression level with the clinical parameters of patients were analyzed. Results Compared with the healthy control subjects, the patients with MDS showed significantly increased expression levels of SPAG6 in the BMMNCs with significant abnormal hypomethylation in SPAG6 gene promoter region (P 0.05). The abnormal hypomethylation of SPAG6 gene promoter was significantly correlated with age and disease risk stratification (P 0.05). Conclusion SPAG6 is highly expressed in the BMMNCs of patients with MDS, which is associated with the occurrence, progression and a poor prognosis of the disease. Epigenetic regulation can be an important mechanism for transcriptional regulation of SPAG6.

Keywords

• sperm-associated antigen 6 gene
• promoter methylation
• myelodysplastic syndrome