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Epigenetics and its role in male infertility

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Abstract

Male infertility is a common and complex problem affecting 1 in 20 men. Despite voluminous research in this field, in many cases, the underlying causes are unknown. Epigenetic factors play an important role in male infertility and these have been studied extensively. Epigenetic modifications control a number of processes within the body, but this review will concentrate on male fertility and the consequences of aberrant epigenetic regulation/modification. Many recent studies have identified altered epigenetic profiles in sperm from men with oligozoospermia and oligoasthenoteratozoospermia. During gametogenesis and germ cell maturation, germ cells undergo extensive epigenetic reprogramming that involves the establishment of sex-specific patterns in the sperm and oocytes. Increasing evidence suggests that genetic and environmental factors can have negative effects on epigenetic processes controlling implantation, placentation and fetal growth. This review provides an overview of the epigenetic processes (histone-to-protamine exchange and epigenetic reprogramming post-fertilization), aberrant epigenetic reprogramming and its association with fertility, possible risks for ART techniques, testicular cancer and the effect of environmental factors on the epigenetic processes.

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Authors and Affiliations

  1. Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, 110029, India

    Rima Dada & Manoj Kumar

  2. Centre for Cellular and Molecular Biology, Hyderabad, 500007, India

    Rachel Jesudasan

  3. Unidad de Genética, Complejo Hospitalario Universitario A Coruña (INIBIC), As Xubias 84, 15006, A Coruña, Spain

    Jose Luis Fernández

  4. Unidad de Genética, Departamento de Biología, Universidad Autónoma de Madrid, 28049, Madrid, Spain

    Jaime Gosálvez

  5. Center for Reproductive Medicine, Cleveland Clinic 9500 Euclid Avenue, Desk A19.1, Cleveland, OH, 44195, USA

    Ashok Agarwal

Authors
  1. Rima Dada
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  2. Manoj Kumar
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  3. Rachel Jesudasan
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  4. Jose Luis Fernández
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  5. Jaime Gosálvez
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  6. Ashok Agarwal
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Correspondence to Ashok Agarwal.

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Epigenetic mechanisms regulate germ cell development and differentiation. Sperm epigenome is critical for optimal embryogenesis. Sperm from infertile men are prone to epigenetic instability and this may lead to increased incidence of imprinting defects in children conceived by advanced assisted reproductive procedures.

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Dada, R., Kumar, M., Jesudasan, R. et al. Epigenetics and its role in male infertility. J Assist Reprod Genet 29, 213–223 (2012). https://doi.org/10.1007/s10815-012-9715-0

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  • DOI: https://doi.org/10.1007/s10815-012-9715-0

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