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揭示端粒在人类生殖和男性因素不育中的相关性。

Shedding light into the relevance of telomeres in human reproduction and male factor infertility†.

机构信息

Laboratory of Cell Biology, Department of Microscopy, and Multidisciplinary Unit for Biomedical Research (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.

Department of Life Sciences, Faculty of Sciences and Technology, New University of Lisbon (FCT-UNL), Campus Caparica, Caparica, Portugal.

出版信息

Biol Reprod. 2019 Feb 1;100(2):318-330. doi: 10.1093/biolre/ioy215.

DOI:10.1093/biolre/ioy215
PMID:30285087
Abstract

Sperm telomere length (STL) is a promising new parameter for sperm quality analysis that may elucidate the molecular mechanisms underlying the idiopathic cases of male factor infertility, which represent almost half of all the male factor infertility cases worldwide. Telomeres consist of nucleoprotein structures present at the ends of eukaryotic chromosomes, whose protective functions maintain the genomic stability. Their role in reproduction includes an active intervention during gametogenesis, fertilization, and preimplantation embryo development. In consonance, studies have shown that compromised telomere homeostasis is associated with male infertility. Since critically short telomeres have their function affected, assessing STL may be a fast and economic method for sperm quality analysis and expectantly contribute to improve the success of fertility treatments. This hypothesis is supported by several reports associating STL with seminal parameters, sperm genome integrity, and clinical outcomes. However, there are other studies in the literature that do not demonstrate these associations. Additionally, it is still not clear whether the lengthening mechanisms of telomeres occurring during early embryo development resume the inherited telomere length. Further research is essential to clarify the suitability of STL as a biomarker for male infertility, before it could be routinely implemented in medically assisted reproduction centers. Understanding the molecular mechanisms underlying STL function and dynamics will provide us new insights into the origins of male infertility and a possible new useful tool as an outcome predictor for assisted reproduction.

摘要

精子端粒长度(STL)是一种有前途的新的精子质量分析参数,它可能阐明导致特发性男性不育的分子机制,特发性男性不育约占全球所有男性因素不育病例的一半。端粒由真核染色体末端的核蛋白结构组成,其保护功能维持基因组的稳定性。它们在生殖中的作用包括在配子发生、受精和着床前胚胎发育过程中的积极干预。因此,研究表明,端粒稳态受损与男性不育有关。由于端粒严重缩短会影响其功能,因此评估 STL 可能是一种快速且经济的精子质量分析方法,并有望提高生育治疗的成功率。这一假设得到了几项研究的支持,这些研究将 STL 与精液参数、精子基因组完整性和临床结果联系起来。然而,文献中也有其他研究并未显示出这些关联。此外,尚不清楚早期胚胎发育过程中端粒的延长机制是否能恢复遗传的端粒长度。在 STL 作为男性不育的生物标志物常规应用于医学辅助生殖中心之前,还需要进一步的研究来明确其适用性。了解 STL 功能和动态的分子机制将为我们提供新的见解,了解男性不育的起源,并为辅助生殖提供一个可能的新的有用工具作为结果预测器。

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Evaluation of telomere length and telomerase activity on predicting in vitro fertilization treatment outcomes.评估端粒长度和端粒酶活性对预测体外受精治疗结局的影响。
J Assist Reprod Genet. 2024 Jun;41(6):1463-1473. doi: 10.1007/s10815-024-03117-6. Epub 2024 May 2.
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Oxidative Stress, Telomere Length and Telomerase Activity in Spermatogenesis Disorders (Review of Scientific Activity).
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The crosstalk between telomeres and DNA repair mechanisms: an overview to mammalian somatic cells, germ cells, and preimplantation embryos.端粒与 DNA 修复机制的串扰:哺乳动物体细胞、生殖细胞和着床前胚胎概述。
J Assist Reprod Genet. 2024 Feb;41(2):277-291. doi: 10.1007/s10815-023-03008-2. Epub 2024 Jan 2.
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