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Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational
Ravishankara Bellampalli1,1, Manik Vohra1,1, Kashish Sharma1
1Department of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.
Cancer Biomarkers : Section a of Disease Markers
|June 7, 2017
Summary
The betaine homocysteine methyltransferase (BHMT) gene polymorphism rs3733890 showed no significant association with acute lymphoblastic leukemia (ALL). Further research with larger sample sizes is needed to explore BHMT gene variations in ALL development.
Area of Science:
- Genetics and Molecular Biology
- Cancer Research
- Biochemistry
Background:
- Methylation is crucial for cellular function, involving enzymes like methionine synthase (MTR) and betaine homocysteine methyltransferase (BHMT).
- Genetic variations in methylation pathways are an understudied area in cancer etiology.
- BHMT, particularly the rs3733890 polymorphism, plays a role in homocysteine remethylation.
Purpose of the Study:
- To investigate the association between the BHMT gene polymorphism (rs3733890) and acute lymphoblastic leukemia (ALL).
- To perform in-silico analysis of variations within the BHMT gene.
Main Methods:
- Screening of BHMT (rs3733890) using Tetra-primer Amplification Refractory Mutation System PCR (T-ARMS-PCR).
- Confirmation of the polymorphism via DNA sequencing.
- In-silico analysis utilizing bioinformatics tools to characterize gene variations.
Main Results:
- BHMT (rs3733890) demonstrated no significant association with childhood or adult ALL.
- Bioinformatics analysis identified 18 deleterious nsSNPs, 3 SNPs affecting miRNA-binding sites in the 3'-UTR, and 11 CNVs in the BHMT gene.
- The BHMT (rs3733890) polymorphism led to significant changes in free energy, indicating potential functional impact.
Conclusions:
- The BHMT (rs3733890) polymorphism is not associated with ALL.
- Further studies with larger cohorts are required to validate these findings.
- The roles of other BHMT single nucleotide polymorphisms (SNPs), copy number variations (CNVs), and microRNAs (miRNAs) in ALL development warrant investigation.
