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基因组和表观基因组疾病与男性不育:15 年临床和研究经验的反馈。

Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience.

机构信息

Fertilys Fertility Centers Laval and Brossard, 1950 Maurice-Gauvin Street, Laval, QC H7S 1Z5, Canada.

Genetics Department, Eylau/Unilabs Laboratory, 92110 Clichy, France.

出版信息

Genes (Basel). 2024 Mar 19;15(3):377. doi: 10.3390/genes15030377.

Abstract

Infertility affects around 20% of couples of reproductive age; however, in some societies, as many as one-third of couples are unable to conceive. Different factors contribute to the decline of male fertility, such us environmental and professional exposure to endocrine disruptors, oxidative stress, and life habits with the risk of de novo epigenetics dysregulation. Since the fantastic development of new "omes and omics" technologies, the contribution of inherited or de novo genomes and epigenome disorders to male infertility have been further elucidated. Many other techniques have become available to andrology laboratories for the investigation of genome and epigenome integrity and the maturation and the competency of spermatozoa. All these new methods of assessment are highlighting the importance of genetics and epigenetics investigation for assisted reproduction pathology and for supporting professionals in counselling patients and proposing different management strategies for male infertility. This aims to improve clinical outcomes while minimizing the risk of genetics or health problems at birth.

摘要

不孕不育影响着大约 20%的育龄夫妇;然而,在某些社会中,多达三分之一的夫妇无法怀孕。许多因素导致男性生育力下降,如环境和职业暴露于内分泌干扰物、氧化应激以及具有新表观遗传学调控失调风险的生活习惯。随着新的“组学和组学”技术的飞速发展,遗传或新生基因组和表观基因组紊乱对男性不育的影响得到了进一步阐明。许多其他技术已可用于男科实验室,用于研究基因组和表观基因组的完整性以及精子的成熟和功能。所有这些新的评估方法都强调了遗传学和表观遗传学研究对辅助生殖病理学的重要性,并为专业人员提供支持,为男性不育症患者提供咨询并提出不同的管理策略。其目的是在降低出生时遗传或健康问题风险的同时,提高临床治疗效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b94/10970370/fbb15c8cc04c/genes-15-00377-g001.jpg

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