Stem Cell Gene Mutation and MTHFR C677T Variants Increased“Risk” in Acute Myeloid Leukemia Patients

Acute Myeloid Leukemia (AML) is a genetic disorder designated as t(4;11) (q21;23) showing interaction between gene and environment. Stem cell markers (Oct4, Nanog3 & Sox2) are the transcription factors regulating pluripotency during early differentiation of embryo. The role of stem cells interaction with severity of disease has been poorly described. Hence, the curiosity has been developed to determine the frequency of stem cell gene mutation and their correlation with MTHFR C677T gene. Present findings reveals the variable frequency of Nanog3 i.e. up (55.0%), down (27.3%) regulation and 18.20 % complete disappearance (null) of band consist of 151bp. Oct4 (91.00%) and Sox2(64.00%) shows high prevalence of stem cell gene mutation. Similarly, Sox2 also showing variable frequency of over expression & regression (9.10%) in AML cases with respect to controls (13.33%) and showing lack of significant differences (p<0.05) using x2 test. MTHFR (C677T) gene polymorphism showing variable frequency of genotypes CC(45.50%), CT(55.00%) between homozygous and heterozygous conditions, respectively. The study was further extended to confirm by chromosomal analysis, revealed 81.00% cases showing Philadelphia chromosome +ve t(4;11) (q21-q23) with 19.00 % cases involving chromosome breakage. Present study concluded that mutation of stem cell gene (s) may be consider as genetic marker for cellular heterogeneity, require to maintain pluripotency and confirming association due to heterozygous condition of MTHFR genotypes are responsible to increase “risk factor” in AML. *Corresponding author: Ajit K Saxena, Human Cytogenetic & Molecular Genetic Laboratory, Centre of Expérimental Médicine & Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, (U.P), India, Tel: 91-05426702167/91-9235838943; E-mail: [email protected] Received March 20, 2012; Accepted July 17, 2012; Published July 20, 2012 Citation: Shashi, Jyoti, Rinki, Usha, Saxena AK (2012) Stem Cell Gene Mutation and MTHFR C677T Variants Increased“Risk” in Acute Myeloid Leukemia Patients. Hereditary Genet 1:113. doi:10.4172/2161-1041.1000113 Copyright: © 2012 Shashi, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.