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Epigenetische Aspekte der Reproduktionsmedizin

Epigenetic aspects of reproductive medicine

  • Leitthema
  • Published:
Gynäkologische Endokrinologie Aims and scope

Zusammenfassung

Hintergrund

Assistierte Reproduktionstechniken (ART) sind mit einem erhöhten Risiko perinataler Probleme und angeborener Fehlbildungen assoziiert. Zudem scheinen seltene Imprinting-Erkrankungen wie das Beckwith-Wiedemann-Syndrom (BWS) und das Angelman-Syndrom (AS) nach ART häufiger aufzutreten.

Fragestellung

Im vorliegenden Beitrag sollen die epigenetischen und phänotypischen Effekte von ART beim Menschen und im Tiermodell dargestellt werden.

Material und Methoden

Die Ergebnisse von Grundlagenarbeiten beim Menschen und im Tiermodell werden zusammengefasst und diskutiert.

Ergebnisse

Die Inzidenz von Imprinting-Erkrankungen beim Menschen nach ART ist eindeutig erhöht. Der kausale Zusammenhang mit den ART selbst und/oder der Infertilität/Subfertilität der Paare ist noch nicht endgültig geklärt. ART-induzierte Effekte auf die Imprint-Etablierung in Oozyten und die epigenetische Reprogrammierung nach der Befruchtung werden in Tiermodellen häufiger als beim Menschen beobachtet.

Schlussfolgerungen

Die bisherigen Untersuchungen beim Menschen und in Tiermodellen haben wichtige Hinweise auf epigenetische Effekte von ART geliefert. Sie beschränken sich im Wesentlichen auf das Auftreten von Imprinting-Erkrankungen bzw. die Methylierung geprägter Gene. Weitere Studien auf der Basis hochmoderner genomweiter Analysetechniken an Tiermodellen und beim Menschen, insbesondere an Kindern aus ART-Schwangerschaften, sind notwendig, um die Effekte von ART auf die Gesundheit und das Epigenom detaillierter charakterisieren und mechanistisch verstehen zu können.

Abstract

Background

Assisted reproductive techniques (ART) are associated with an increased risk for perinatal problems and congenital malformations. In addition, imprinting diseases such as Beckwith–Wiedemann syndrome (BWS) and Angelman syndrome (AS) seem to occur more frequently after ART.

Objective

The aim of the present work is to describe the epigenetic and phenotypic effects of ART in humans and animal models.

Materials and methods

Results from basic studies in humans and animal models are summarized and discussed.

Results

The incidence of imprinting diseases in humans after ART is definitely increased. The causal relationship with the ART themselves and/or the infertility/subfertility of the couples has not yet been clarified. ART-induced epigenetic effects on imprint establishment in oocytes and epigenetic reprogramming after fertilization are more frequently observed in animal models than in humans.

Conclusion

Previous work in humans and animal models have provided important evidence on the epigenetic effects of ART and were essentially limited to the occurrence of imprinting diseases and the methylation analysis of imprinted genes, respectively. Further studies based on modern genome-wide analysis techniques are required in animal models and humans particularly focusing on children from ART pregnancies to better characterize and mechanistically understand the effects of ART on health outcome and the epigenome.

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Danksagung

Die im Labor von U. Zechner durchgeführten Arbeiten werden von der Deutschen Forschungsgemeinschaft unterstützt [SPP 1356 (ZE 442/4-2) und FOR 1041 (ZE 442/5-2)].

Einhaltung ethischer Richtlinien

Interessenkonflikt. U. Zechner und H. Lehnen geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland

    U. Zechner

  2. Klinik für Frauenheilkunde und Geburtshilfe, Elisabeth-Krankenhaus Rheydt, Städtische Kliniken Mönchengladbach, Mönchengladbach, Deutschland

    H. Lehnen

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  1. U. Zechner
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Correspondence to U. Zechner.

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Zechner, U., Lehnen, H. Epigenetische Aspekte der Reproduktionsmedizin. Gynäkologische Endokrinologie 12, 79–86 (2014). https://doi.org/10.1007/s10304-013-0592-0

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  • DOI: https://doi.org/10.1007/s10304-013-0592-0

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