Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow, U.P., 226014, India.
J Assist Reprod Genet. 2018 Dec;35(12):2121-2128. doi: 10.1007/s10815-018-1305-3. Epub 2018 Sep 15.
Approximately 1-2% of the women faces three or more successive spontaneous miscarriages termed as recurrent miscarriage (RM). Many clinical factors have been attributed so far to be the potential risk factors in RM, including uterine anomalies, antiphospholipid syndrome, endocrinological abnormalities, chromosomal abnormalities, and infections. However, in spite of extensive studies, reviews, and array of causes known to be associated with RM, about 50% cases encountered by treating physicians remains unknown. The aims of this study were to evaluate recent publications and to explore oocyte-specific genetic factors that may have role in incidence of recurrent miscarriages.
Recent studies have identified common molecular factors contributing both in establishment of ovarian reserve and in early embryonic development. Also, studies have pointed out the relationship between the age-associated depletion of OR and increase in the risk of miscarriages, thus suggestive of an interacting biology. Here, we have gathered literature evidences in establishing connecting links between genetic factors associated with age induced or pathological OR depletion and idiopathic RM, which are the two extreme ends of female reproductive pathology.
In light of connecting etiological link between infertility and RM as reviewed in this study, interrogating the oocyte-specific genes with suspected roles in reproductive biology, in cases of unexplained RM, may open new possibilities in widening our understanding of RM pathophysiology.
约有 1-2%的女性会经历三次或更多次连续的自然流产，称为复发性流产（RM）。迄今为止，许多临床因素都被归因于 RM 的潜在危险因素，包括子宫异常、抗磷脂综合征、内分泌异常、染色体异常和感染。然而，尽管进行了广泛的研究、综述和一系列已知与 RM 相关的原因，但治疗医生遇到的约 50%病例仍然未知。本研究旨在评估最近的出版物，并探讨卵母细胞特异性遗传因素在复发性流产中的可能作用。
最近的研究已经确定了常见的分子因素，这些因素既与卵巢储备的建立有关，也与早期胚胎发育有关。此外，研究还指出了与年龄相关的 OR 耗竭与流产风险增加之间的关系，这表明存在相互作用的生物学机制。在这里，我们收集了文献证据，以建立与年龄相关或病理性 OR 耗竭相关的遗传因素与特发性 RM 之间的联系，特发性 RM 是女性生殖病理学的两个极端。
鉴于本研究中综述的不孕与 RM 之间的病因联系，在不明原因 RM 的情况下，对具有生殖生物学可疑作用的卵母细胞特异性基因进行检测，可能为拓宽我们对 RM 病理生理学的理解开辟新的可能性。
