Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization
| العنوان: | Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization |
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| المؤلفون: | Padmalatha S. Rai, Kashish Sharma, Kapaettu Satyamoorthy, Krishna Prasad, Nalini Bhaskaranand, Manik Vohra, Kamalakshi G. Bhat, Anu Radha Sharma, Ravishankara Bellampalli |
| المصدر: | Cancer Biomarkers. 19:393-401 |
| بيانات النشر: | IOS Press, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Untranslated region, Cancer Research, Adolescent, Genotype, Homocysteine, Single-nucleotide polymorphism, medicine.disease_cause, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Polymorphism (computer science), Genetics, medicine, Humans, Methionine synthase, Child, Gene, Mutation, biology, Genetic Variation, General Medicine, Methylation, Precursor Cell Lymphoblastic Leukemia-Lymphoma, 030104 developmental biology, Betaine-Homocysteine S-Methyltransferase, Oncology, chemistry, Case-Control Studies, 030220 oncology & carcinogenesis, biology.protein, Female |
| الوصف: | 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. In-silico 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 3'-UTR (rs59109725, rs116634518 and rs138578732) alter the miRNA-binding site, and 11 CNVs are present in the BHMT gene. As consequence of BHMT (rs3733890) polymorphism the free energy changes from -101210.1 kJ/mol to -200021.8 kJ/mol. Conclusions BHMT (rs3733890) polymorphism showed no association with ALL. Hence this investigation needs further evaluation in larger sample size and effect of other SNPs, CNVs and miRNA's is required to elucidate the role of BHMT gene in ALL development. |
| تدمد: | 1875-8592 1574-0153 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb2dbefcc86f8431c72b7e12a30b27f https://doi.org/10.3233/cbm-160186 |
| رقم الأكسشن: | edsair.doi.dedup.....aeb2dbefcc86f8431c72b7e12a30b27f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18758592 15740153 |
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