Doroftei Bogdan, Ilie Ovidiu-Dumitru, Puiu Maria, Ciobica Alin, Ilea Ciprian
Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", University Street, no 16, 700115 Iasi, Romania.
Clinical Hospital of Obstetrics and Gynecology "Cuza Voda", Cuza Voda Street, no 34, 700038 Iasi, Romania.
Diagnostics (Basel). 2021 Feb 5;11(2):246. doi: 10.3390/diagnostics11020246.
Infertility is a highly debated topic today. It has been long hypothesized that infertility has an idiopathic cause, but recent studies demonstrated the existence of a genetic substrate. Fortunately, the methods of editing the human genome proven to be revolutionary. Following research conducted, we identified a total of 21 relevant studies; 14 were performed on mice, 5 on zebrafish and 2 on rats. We concluded that over forty-four genes in total are dispensable for fertility in both sexes without affecting host homeostasis. However, there are genes whose loss-of-function induces moderate to severe phenotypic changes in both sexes. There were situations in which the authors reported infertility, exhibited by the experimental model, or other pathologies such as cryptorchidism, cataracts, or reduced motor activity. Overall, zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 are techniques that offer a wide range of possibilities for studying infertility, even to create mutant variants. It can be concluded that ZFNs, TALENs, and CRISPR/Cas9 are crucial tools in biomedical research.
不孕不育是当今一个备受争议的话题。长期以来,人们一直推测不孕不育有特发性病因,但最近的研究表明存在遗传基础。幸运的是,事实证明人类基因组编辑方法具有革命性。在进行相关研究后,我们总共确定了21项相关研究;其中14项是在小鼠身上进行的,5项是在斑马鱼身上进行的,2项是在大鼠身上进行的。我们得出结论,共有超过44个基因在不影响宿主内稳态的情况下对两性生育能力并非必需。然而,有些基因功能丧失会在两性中引起中度至重度的表型变化。在某些情况下,作者报告了实验模型表现出的不孕不育,或其他病理状况,如隐睾症、白内障或运动活动减少。总体而言,锌指核酸酶(ZFNs)、转录激活样效应因子核酸酶(TALENs)和成簇规律间隔短回文重复序列(CRISPR)/Cas9技术为研究不孕不育提供了广泛的可能性,甚至可以创造突变变体。可以得出结论,ZFNs、TALENs和CRISPR/Cas9是生物医学研究中的关键工具。