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      Polymorphism of Genes and Implantation Failure

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          Abstract

          Implantation failure is the most frequent cause of pregnancy loss in couples who try to conceive, either in a natural way or using assisted reproductive techniques (ART). Identify the precise mechanisms of implantation failure can lead to identify couples at risk and also providing appropriate therapeutic options to affected couples. Despite the high prevalence of this disorder, a few causing factors are demonstrated so far. Recent studies indicate that genetic factors play an important role in the occurrence of recurrent implantation failure. Although some of these factors, such as numerical chromosomal aneuploidy are known to be causative factors, there are some other factors that solely increase susceptibility to this event. In the present review we try to list the genetic polymorphisms that are known as susceptibility factors in implantation failure.

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          Most cited references81

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          A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans.

          The tumor suppressor p53 gene is mutated in minimally half of all cancers. It is therefore reasonable to assume that naturally occurring polymorphic genetic variants in the p53 stress response pathway might determine an individual's susceptibility to cancer. A central node in the p53 pathway is the MDM2 protein, a direct negative regulator of p53. In this report, a single nucleotide polymorphism (SNP309) is found in the MDM2 promoter and is shown to increase the affinity of the transcriptional activator Sp1, resulting in higher levels of MDM2 RNA and protein and the subsequent attenuation of the p53 pathway. In humans, SNP309 is shown to associate with accelerated tumor formation in both hereditary and sporadic cancers. A model is proposed whereby SNP309 serves as a rate-limiting event in carcinogenesis.
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            The codon 72 polymorphic variants of p53 have markedly different apoptotic potential.

            The gene TP53, encoding p53, has a common sequence polymorphism that results in either proline or arginine at amino-acid position 72. This polymorphism occurs in the proline-rich domain of p53, which is necessary for the protein to fully induce apoptosis. We found that in cell lines containing inducible versions of alleles encoding the Pro72 and Arg72 variants, and in cells with endogenous p53, the Arg72 variant induces apoptosis markedly better than does the Pro72 variant. Our data indicate that at least one source of this enhanced apoptotic potential is the greater ability of the Arg72 variant to localize to the mitochondria; this localization is accompanied by release of cytochrome c into the cytosol. These data indicate that the two polymorphic variants of p53 are functionally distinct, and these differences may influence cancer risk or treatment.
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              Molecular cues to implantation.

              Successful implantation is the result of reciprocal interactions between the implantation-competent blastocyst and receptive uterus. Although various cellular aspects and molecular pathways of this dialogue have been identified, a comprehensive understanding of the implantation process is still missing. The receptive state of the uterus, which lasts for a limited period, is defined as the time when the uterine environment is conducive to blastocyst acceptance and implantation. A better understanding of the molecular signals that regulate uterine receptivity and implantation competency of the blastocyst is of clinical relevance because unraveling the nature of these signals may lead to strategies to correct implantation failure and improve pregnancy rates. Gene expression studies and genetically engineered mouse models have provided valuable clues to the implantation process with respect to specific growth factors, cytokines, lipid mediators, adhesion molecules, and transcription factors. However, a staggering amount of information from microarray experiments is also being generated at a rapid pace. If properly annotated and explored, this information will expand our knowledge regarding yet-to-be-identified unique, complementary, and/or redundant molecular pathways in implantation. It is hoped that the forthcoming information will generate new ideas and concepts for a process that is essential for maintaining procreation and solving major reproductive health issues in women.
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                Author and article information

                Journal
                Int J Mol Cell Med
                Int J Mol Cell Med
                IJMCM
                International Journal of Molecular and Cellular Medicine
                Babol University of Medical Sciences (Babol, Iran )
                2251-9637
                2251-9645
                Winter 2013
                : 2
                : 1
                : 1-8
                Affiliations
                [1 ] Department Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
                [2 ] Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, I ran.
                Author notes
                [* ]Corresponding author: Department of Medical Genetics, School of medicine, Mashhad University of Medical Sciences, Azadi square, Mashhad, Iran…E-mail: nazarabadim@ 123456mums.ac.ir
                Article
                ijmcm-2-001
                3920519
                24551783
                8d0ce746-72f5-4cc7-9f51-ab39f7daaa1a
                © 2013, International Journal of Molecular and Cellular Medicine

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, ( http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 7 February 2013
                : 3 March 2013
                Categories
                Review Article

                gene,polymorphism,implantation failure
                gene, polymorphism, implantation failure

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