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精子表观基因组中的表观遗传机制及其诊断潜力。

Epigenetic mechanisms within the sperm epigenome and their diagnostic potential.

机构信息

Department of Physiology and Developmental Biology, Brigham Young University, Provo, UT, USA.

Department of Physiology and Developmental Biology, Brigham Young University, Provo, UT, USA.

出版信息

Best Pract Res Clin Endocrinol Metab. 2020 Dec;34(6):101481. doi: 10.1016/j.beem.2020.101481. Epub 2020 Dec 15.

Abstract

The sperm epigenome contains a highly unique and specialized epigenetic landscape. Insightful questions need be asked about these epigenetic signatures and their predictive potential to assess the approximately 1 in 6 couples who experience infertility. Among those couples that do experience infertility, approximately half of the cases involve a male factor. Unfortunately, there is a significant lack of effective diagnostic tools in the male infertility space and thus clinicians are left with little data upon which they can formulate data driven treatment plans. Taking together this information and the striking prevalence of male infertility it's obvious that there is a need for improved diagnostic techniques for male infertility. Many studies have identified what appear to be clinically meaningful epigenetic alterations in sperm that may add utility in the diagnoses of infertility and improvement of pregnancy outcomes. Many researchers believe that continued analysis of these various epigenetic mechanisms may provide powerful predictive insight. In fact, there is promising current data suggesting that the predictive power of DNA methylation, Nuclear Proteins, and miRNA signatures in sperm likely can improve what is currently found with traditional diagnosis of male infertility. The focus of this review is to give a brief understanding to the field of epigenetics and the potential predictive power the sperm epigenome may hold in relation to improving the treatment and diagnosis of male infertility patients.

摘要

精子表观基因组包含高度独特和专业化的表观遗传景观。需要深入了解这些表观遗传特征及其预测潜力,以评估大约 1/6 的不孕夫妇。在那些确实经历不孕的夫妇中,大约一半的病例涉及男性因素。不幸的是,男性不育领域缺乏有效的诊断工具,因此临床医生几乎没有数据可以制定基于数据的治疗计划。综合这些信息和男性不育症的惊人流行程度,显然需要改进男性不育症的诊断技术。许多研究已经确定了精子中似乎具有临床意义的表观遗传改变,这可能有助于不孕的诊断和妊娠结局的改善。许多研究人员认为,对这些不同的表观遗传机制的持续分析可能提供强大的预测性见解。事实上,目前有有希望的证据表明,精子中 DNA 甲基化、核蛋白和 miRNA 特征的预测能力可能会提高目前在男性不育传统诊断中发现的水平。本综述的重点是简要了解表观遗传学领域以及精子表观基因组在改善男性不育症患者的治疗和诊断方面可能具有的潜在预测能力。

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