Acute Lymphoblastic Leukemia and Genetic Variations in BHMT gene: Case-control study and Computational Characterization

Bellampalli, Ravishankara and Vohra, Manik and Sharma, Kashish and Bhaskaranand, Nalini and Bhat, Kamalakshi G and Prasad, Krishna and Sharma, Anu R and Satyamoorthy, K and Rai, Padmalatha S (2017) Acute Lymphoblastic Leukemia and Genetic Variations in BHMT gene: Case-control study and Computational Characterization. Cancer Biomarkers, 19 (4). pp. 393-401. ISSN 1574-0153

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Abstract

BACKGROUND: Remethylation of homocysteine is catalyzed by B12 dependent methionine synthase (MTR) in all types of cells and by B12 non-dependent betaine homocysteine methyltransferase (BHMT) in liver and kidney cells. Of many etiologies of cancer, an unexplored area is the variations of genes implicated in methylation reaction. OBJECTIVE: The study evaluated the association of BHMT (rs3733890) with acute lymphoblastic leukemia (ALL), followed by in-silico characterization of variations in BHMT gene.METHODS: BHMT [rs3733890; c.742G>A, which substitutes an arginine by a glutamine at codon 239 (R239Q)] was screened by Tetra-primer Amplification Refractory Mutation System PCR (T-ARMS-PCR) and confirmed using DNA sequencing. Insilico analysis was conducted using bioinformatics tools. RESULTS: BHMT (rs3733890) showed an insignificant association with both childhood and adult ALL. Bioinformatics analysis showed that 18 nsSNPs are deleterious, 3 SNPs in 30-UTR (rs59109725, rs116634518 and rs138578732) alter the miRNAbinding site, and 11 CNVs are present in the BHMT gene. As consequence of BHMT (rs3733890) polymorphism the free energy changes from

Item Type: Article
Uncontrolled Keywords: Acute lymphoblastic leukemia; BHMT gene; T-ARMS-PCR; SNPs
Subjects: Life Sciences > MLSC Manipal
Medicine > KMC Manipal > Medicine
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 15 Jan 2018 06:27
Last Modified: 15 Jan 2018 06:27
URI: http://eprints.manipal.edu/id/eprint/147812

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