Contributions
Abstract: PB1619
Type: Publication Only
Background
In cells, while DNA bases can be protected by double helix formation and nucleosome packaging, deoxyribonucleotide triphosphates are unprotected, thus, are vulnarable to damage. One of the enzymes which are responsible for removing damaged nucleotides is Nudix hydrolase15 (NUDT15). NUDT15 works as a negative regulator in thiopurine metabolism. Thioguanines are active metabolites of thiopurines. Mechanisms of action of thioguanines are disruption of DNA synthesis and induction of apoptosis. NUDT15 inhibits incorrect base pairing and apoptosis through catalysis of thioguanine hydrolysis. Tanaka et al. claimed that, besides TPMT variants in Japanese patients, there might be possible additional factors that may influence thiopurine toxicity. They reported that NUDT15 variants are more specific to Asian population when compared to European people. As far as we know, this is the first study on screening of possible variants in the first exon of NUDT15 in Turkish children with precursor B-cell acute lymphoblastic leukemia (Pre-B ALL).
Aims
Methods
Results
After screening of first exon of NUDT15, we detected two variations. First variation was intronic insertion which was defined as rs3831098 (c.158+52_158+53insGGGGCGTGCGCAGAGGGACGATCTC). The other intronic variation was defined as rs79687000 (c.158+117C>T). rs3831098 was determined in one of the 83 patients and rs79687000 was found in three out of the 83 patients.
Conclusion
Session topic: 1. Acute lymphoblastic leukemia - Biology
Keyword(s): mutation analysis, Leukemia, Children
Abstract: PB1619
Type: Publication Only
Background
In cells, while DNA bases can be protected by double helix formation and nucleosome packaging, deoxyribonucleotide triphosphates are unprotected, thus, are vulnarable to damage. One of the enzymes which are responsible for removing damaged nucleotides is Nudix hydrolase15 (NUDT15). NUDT15 works as a negative regulator in thiopurine metabolism. Thioguanines are active metabolites of thiopurines. Mechanisms of action of thioguanines are disruption of DNA synthesis and induction of apoptosis. NUDT15 inhibits incorrect base pairing and apoptosis through catalysis of thioguanine hydrolysis. Tanaka et al. claimed that, besides TPMT variants in Japanese patients, there might be possible additional factors that may influence thiopurine toxicity. They reported that NUDT15 variants are more specific to Asian population when compared to European people. As far as we know, this is the first study on screening of possible variants in the first exon of NUDT15 in Turkish children with precursor B-cell acute lymphoblastic leukemia (Pre-B ALL).
Aims
Methods
Results
After screening of first exon of NUDT15, we detected two variations. First variation was intronic insertion which was defined as rs3831098 (c.158+52_158+53insGGGGCGTGCGCAGAGGGACGATCTC). The other intronic variation was defined as rs79687000 (c.158+117C>T). rs3831098 was determined in one of the 83 patients and rs79687000 was found in three out of the 83 patients.
Conclusion
Session topic: 1. Acute lymphoblastic leukemia - Biology
Keyword(s): mutation analysis, Leukemia, Children