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Imprinting disorders and art

Lynne M Bird, Wen-Hann Tan
This issue of the Seminar Series is devoted to reviewing the state-of-the-art for treatment of non-metabolic genetic disorders. We begin with a primer on the design of studies in rare diseases. We then review a broad spectrum of disorders to reflect many different genetic mechanisms, including disorders stemming from a chromosomal basis as well as those due to single gene aberrations; those demonstrating principles of imprinting and mosaicism; and single organ as well as multisystem disorders. In doing so, a wide variety of treatment approaches are explained in this issue, including cell therapy, chromosome therapy, gene therapy, strategies for gene regulation with exon skipping and anti-sense oligonucleotides, stem cell modification and reintroduction, and use of genetic editing tools...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Laura Whidden, Josée Martel, Sophia Rahimi, J Richard Chaillet, Donovan Chan, Jacquetta M Trasler
Clinical studies have revealed an increased incidence of growth and genomic imprinting disorders in children conceived using Assisted Reproductive Technologies (ART), and aberrant DNA methylation has been implicated. We propose that compromised oocyte quality associated with female infertility may make embryos more susceptible to the induction of epigenetic defects by ART. DNA methylation patterns in the preimplantation embryo are dependent on the oocyte-specific DNA methyltransferase 1o (DNMT1o), levels of which are decreased in mature oocytes of aging females...
August 29, 2016: Human Molecular Genetics
Ji Yoon Han, Joonhong Park, Woori Jang, Hyojin Chae, Myungshin Kim, Yonggoo Kim
Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. This occurs via one of the three main genetic mechanisms, as follows: Deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. Recent studies have reported an association between imprinting disorders and assisted reproductive technologies (ART). The current study presents a 6-year-old female patient who is a dizygotic twin, in which one was born with de novo microdeletion at 15q11...
July 2016: Biomedical Reports
Michael D Fountain, Emmelien Aten, Megan T Cho, Jane Juusola, Magdalena A Walkiewicz, Joseph W Ray, Fan Xia, Yaping Yang, Brett H Graham, Carlos A Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A L Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K Kukolich, Marjan M Weiss, Conny M A van Ravenswaaij-Arts, Inge B Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K Lewis, Simone Race, Laura L Stewart, Beverly Hay, Andrea M Lewis, Rita L Guerreiro, Jose T Bras, Marcia P Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A Bok, Gijs W E Santen, Christian P Schaaf
PURPOSE: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. The causality of the reported variants in the context of the patients' phenotypes was questioned, as MAGEL2 whole-gene deletions seem to cause little or no clinical phenotype...
January 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Carlee R White, Michelle M Denomme, Francis R Tekpetey, Valter Feyles, Stephen G A Power, Mellissa R W Mann
Assisted reproductive technologies (ARTs) represent the best chance for infertile couples to conceive, although increased risks for morbidities exist, including imprinting disorders. This increased risk could arise from ARTs disrupting genomic imprints during gametogenesis or preimplantation. The few studies examining ART effects on genomic imprinting primarily assessed poor quality human embryos. Here, we examined day 3 and blastocyst stage, good to high quality, donated human embryos for imprinted SNRPN, KCNQ1OT1 and H19 methylation...
December 2, 2015: Scientific Reports
Anja Pinborg, Anne Loft, Liv B Romundstad, Ulla-Britt Wennerholm, Viveca Söderström-Anttila, Christina Bergh, Kristiina Aittomäki
Epigenetic modification controls gene activity without changes in the DNA sequence. The genome undergoes several phases of epigenetic programming during gametogenesis and early embryo development, coinciding with assisted reproductive technologies (ART) treatments. Imprinting disorders have been associated with ART techniques, but disentangling the influence of the ART procedures per se from the effect of the reproductive disease of the parents is a challenge. Epidemiological human studies have shown altered birthweight profiles in ART compared with spontaneously conceived singletons...
January 2016: Acta Obstetricia et Gynecologica Scandinavica
Wenjing Wang, Ruixue Wang, Ruizhi Liu
The connection between male infertility and abnormal methylation of imprinted genes has attracted much attention. Some imprinted genes, e.g., H19, MEG3, MEST and SNRPN, are known to be related with male infertility. Abnormal imprinted information may influence sperm concentration, motility and morphology, but the mechanism is still unclear. Sperm genomic imprinting reconstruction and erase respectively occur at the time of spermatogenesis and before embryo transfer. Many studies have shown that the probability of imprinting disorder syndrome of offspring born through assisted reproductive technology (ART) was significantly higher, leading to the worry about the safety of ART and speculation that the operation and in vitro environment may affect sperm imprinted information, which in turn may lead to imprinting diseases in the offspring...
October 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Eric de Waal, Lisa A Vrooman, Erin Fischer, Teri Ord, Monica A Mainigi, Christos Coutifaris, Richard M Schultz, Marisa S Bartolomei
Assisted reproductive technologies (ART) are associated with several complications including low birth weight, abnormal placentation and increased risk for rare imprinting disorders. Indeed, experimental studies demonstrate ART procedures independent of existing infertility induce epigenetic perturbations in the embryo and extraembryonic tissues. To test the hypothesis that these epigenetic perturbations persist and result in adverse outcomes at term, we assessed placental morphology and methylation profiles in E18...
December 15, 2015: Human Molecular Genetics
Hongfeng Huang, Xuan Chen, Xiaoyu Yang, Yanfang Huang
The number of offspring conceived by assisted reproductive technology (ART) has reached over 5 million. As the primary means for treating infertility, the health of offspring produced by ART has been a long concern. Both procedures of ART and factors underlying infertility can lead to epigenetic changes which can cause certain diseases. This paper has reviewed diseases noted among offspring conceived by ART, which include imprinting disorders, metabolic syndromes and cancers. We also tried to explore the pathogenesis of such diseases from an epigenetic perspective, which may help with evaluation the influence of ART on the offspring and its safety for application...
August 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Mariyum Hyrapetian, Eva M Loucaides, Alastair G Sutcliffe
In vitro fertilisation (IVF) and other assisted reproductive therapies (ART) offer hope to subfertile couples worldwide. At least 5 million ART children have been born to date. Their health is an issue that is increasingly relevant: first, to those children and young adults themselves; second, to couples considering fertility treatment; and third, to the general population as ART has progressed from experimental treatment to routine practice. Many concerns about the potential risks to these children have been voiced with varying degrees of supportive evidence...
December 2014: Journal of Reproductive Immunology
Hitoshi Hiura, Hiroaki Okae, Hatsune Chiba, Naoko Miyauchi, Fumi Sato, Akiko Sato, Takahiro Arima
There has been an increase in incidence reports of rare imprinting disorders associated with assisted reproductive technology (ART). ART, including in vitro fertilization and intracytoplasmic sperm injections, is an important treatment for infertile people of reproductive age and increasingly produces children. The identification of epigenetic changes at imprinted loci in ART infants has led to the suggestion that ART techniques themselves may predispose embryos to acquire imprinting errors and diseases. In this review, we note that the particular steps of ART may be prone to induction of imprinting methylation errors during gametogenesis, fertilization and early embryonic development...
2014: Reproductive Medicine and Biology
Maurício M Franco, Adam R Prickett, Rebecca J Oakey
CCCTC-binding factor (CTCF) is the major protein involved in insulator activity in vertebrates, with widespread DNA binding sites in the genome. CTCF participates in many processes related to global chromatin organization and remodeling, contributing to the repression or activation of gene transcription. It is also involved in epigenetic reprogramming and is essential during gametogenesis and embryo development. Abnormal DNA methylation patterns at CTCF motifs may impair CTCF binding to DNA, and are related to fertility disorders in mammals...
November 2014: Biology of Reproduction
Gabija Lazaraviciute, Miriam Kauser, Sohinee Bhattacharya, Paul Haggarty, Siladitya Bhattacharya
BACKGROUND: Increasing numbers of children are being conceived by assisted reproductive technology (ART). A number of studies have highlighted an altered epigenetic status in gametes from infertile couples and the possibility of an increased risk of imprinting defects and somatic epigenetic changes in ART conceived children, but the results have been heterogeneous. We performed a systematic review of existing studies to compare the incidence of imprinting disorders and levels of DNA methylation in key imprinted genes in children conceived through in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) with those in children conceived spontaneously...
November 2014: Human Reproduction Update
Sarah Francis, Suseela Yelumalai, Celine Jones, Kevin Coward
Human sperm express two types of protamine: protamine 1 (P1) and the family of protamine 2 (P2) proteins, with P1 and P2 normally existing in a ratio of approximately 1:1. Both the elevation and reduction of this ratio have been linked with male infertility suggesting that abnormalities in protamine expression, processing and replacement may be responsible for effects on semen parameters observed in infertile males affected by deficient protamination, along with abnormalities in associated regulatory processes...
June 2014: Human Fertility: Journal of the British Fertility Society
Bengt Källén
Children born after assisted reproductive technologies (ART) have an increased morbidity. The risk of developing cerebral palsy is nearly doubled and the risk of developing epilepsy is also higher. Behavioural problems including attention deficit/hyperactivity disorder may be more common in children born following ART than among naturally conceived children but the finding is uncertain. Data on autism are difficult to interpret. There may exist a small increase in the incidence of childhood cancer and there is greater evidence of an elevated risk of asthma...
August 2014: Seminars in Fetal & Neonatal Medicine
Asli Uyar, Emre Seli
PURPOSE OF REVIEW: Genomic imprinting refers to preferential allele-specific gene expression. DNA methylation-based molecular mechanisms regulate establishment and maintenance of parental imprints during early embryo development and gametogenesis. Because of the coincident timing, a potential association between assisted reproductive technology (ART) procedures and imprinting defects has been investigated in various studies. In this review, we provide an overview of genomic imprinting and present a summary of the relevant clinical data...
June 2014: Current Opinion in Obstetrics & Gynecology
Eric de Waal, Winifred Mak, Sondra Calhoun, Paula Stein, Teri Ord, Christopher Krapp, Christos Coutifaris, Richard M Schultz, Marisa S Bartolomei
Assisted reproductive technologies (ART) have enabled millions of couples with compromised fertility to conceive children. Nevertheless, there is a growing concern regarding the safety of these procedures due to an increased incidence of imprinting disorders, premature birth, and low birth weight in ART-conceived offspring. An integral aspect of ART is the oxygen concentration used during in vitro development of mammalian embryos, which is typically either atmospheric (~20%) or reduced (5%). Both oxygen tension levels have been widely used, but 5% oxygen improves preimplantation development in several mammalian species, including that of humans...
February 2014: Biology of Reproduction
Louise Tee, Derek Hk Lim, Renuka P Dias, Marie-Odile Baudement, Amy A Slater, Gail Kirby, Tom Hancocks, Helen Stewart, Carol Hardy, Fiona Macdonald, Eamonn R Maher
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15...
2013: Clinical Epigenetics
A Kochanski, T A Merritt, J Gadzinowski, A Jopek
The question of genetic alterations resulting from assisted reproductive technologies (ART) in humans is examined within the organization of the human genome. Increased rates of birth defects have been reported among children conceived using ART; however, questions remain and controversy exists regarding how "infertility" predisposes to birth defects. ART has been shown to be associated with an increased number of chromosomal alterations especially in the X chromosome. There is increased risk for embryonal tumors among ART conceived children, as well as, imprinting disorders (Beckwith-Wiedemann and Angelman Syndromes)...
2013: Journal of Neonatal-perinatal Medicine
Qi-tao Zhan, Pei-pei Pan, Xiang-rong Xu, Hang-ying Lou, Yi-yun Lou, Fan Jin
Over the course of the past 35 years, assisted reproductive technologies (ARTs) have been increasingly used worldwide, while debates on their safety have been generated. Birth defects and imprinting disorders were reported in previous research. Thus, the psychological development of children born following ARTs has become a major concern nowadays. This review gives a systematic view of psychological well-being of children conceived by different types of ART, including in vitro fertilization, intracytoplasmic sperm injection (ICSI), preimplantation genetic diagnosis/screening, and in vitro maturation...
November 2013: Journal of Zhejiang University. Science. B
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