Human induced pluripotent stem cells (hiPSCs) are pluripotent stem cells generated from somatic cells by the introduction of a combination of pluripotency-associated genes such as OCT4, SOX2, along with either KLF4 and c-MYC or NANOG and LIN28 via retroviral or lentiviral vectors. Most importantly, hiPSCs are similar to human embryonic stem cells (hESCs) functionally as they are pluripotent and can potentially differentiate into any desired cell type when provided with the appropriate cues, but do not have the ethical issues surrounding hESCs. For these reasons, hiPSCs have huge potential in translational medicine such as disease modeling, drug screening, and cellular therapy. Indeed, patient-specific hiPSCs have been generated for a multitude of diseases, including many with a neurological basis, in which disease phenotypes have been recapitulated in vitro and proof-of-principle drug screening has been performed.As the techniques for generating hiPSCs are refined and these cells become a more widely used tool for understanding brain development, the insights they produce must be understood in the context of the greater complexity of the human genome and the human brain. Disease models using iPS from Rett syndrome (RTT) patient's fibroblasts have opened up a new avenue of drug discovery for therapeutic treatment of RTT. The analysis of X chromosome inactivation (XCI) upon differentiation of RTT-hiPSCs into neurons will be critical to conclusively demonstrate the isolation of pre-XCI RTT-hiPSCs in comparison to post-XCI RTThiPSCs. The current review projects on iPSC studies in RTT as well as XCI in hiPSC were it suggests for screening new potential therapeutic targets for RTT in future for the benefit of RTT patients. In conclusion, patient-specific drug screening might be feasible and would be particularly helpful in disorders where patients frequently have to try multiple drugs before finding a regimen that works.
Aim The aim of this investigation was to identify whether cigarette smoke increases the frequency of chromosomal aberrations (CA) in male infertility patients. Our study also endeavored to analyze the Y-chromosome deletion in infertile subjects. Methods In total, 96 subjects were recruited, including 45 infertile patients, 45 controls subjects and 6 offsprings of the control smokers. Moreover, serum cotinine and testosterone level were analyzed in subjects. Subjects were categorized based on the pack-years (group I and II were 21.95±2.42 and 30.85±3.79 respectively). Results Elevated level of chromatid type aberrations (CTAs) were observed in group II (13.35±3.32) compared to group I (8.95±3.63) infertiles, whereas chromosomal type aberrations (CSAs) of group II and I were 5.26±1.89 and 4.05±2.19, respectively. In controls, higher degree of CTAs were observed in group II (8.87±2.82) compared to group I (6.23±2.37) and group II CSAs value was 3.65±
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