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Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells
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APEX1 Polymorphisms Affect Acute Myeloid Leukemia Risk, and Its Expression Is Involved in Cell Proliferation and
Nanami Gotoh1, Tsukasa Oda2, Yuya Kitamura1
1Department of Laboratory Science, Graduate School of Health Sciences, Gunma University, Maebashi, Japan.
International Journal of Laboratory Hematology
|November 13, 2024
Summary
Genetic variations in base excision repair (BER) genes, specifically APEX1, are linked to acute myeloid leukemia (AML) risk. APEX1 plays a key role in AML cell differentiation and proliferation.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- DNA repair gene polymorphisms are increasingly recognized for their role in cancer susceptibility.
- Base excision repair (BER) pathway genes are critical for maintaining genomic stability.
- Investigating BER gene polymorphisms in acute myeloid leukemia (AML) can elucidate disease pathogenesis.
Purpose of the Study:
- To examine the association between base excision repair (BER) gene polymorphisms and the risk of developing acute myeloid leukemia (AML).
- To investigate the role of APEX1 gene expression in AML pathogenesis, including cell differentiation and proliferation.
Main Methods:
- Genotyping of four BER genes (APEX1, MUTYH, OGG1, XRCC1) in 106 AML patients and 191 healthy controls.
- Analysis of APEX1 expression levels in bone marrow samples from AML patients and controls.
- Functional assays including APEX1 knockdown in AML cell lines and analysis of CD34+ cell percentages.
Main Results:
- The APEX1-656 T>G polymorphism was significantly associated with increased AML risk under recessive and co-dominant models.
- APEX1 expression was significantly elevated in AML bone marrow compared to controls.
- APEX1 knockdown reduced AML cell proliferation, and its expression levels correlated with CD34+ cell percentages.
Conclusions:
- APEX1 gene polymorphisms represent a potential risk factor for acute myeloid leukemia.
- APEX1 plays a crucial role in regulating the differentiation and proliferation of AML cells.
- Targeting APEX1 may offer a therapeutic strategy for AML treatment.
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