Department of Human Genetics, McGill University Health Centre , Montreal, QC , Canada ; Department of Obstetrics and Gynecology, McGill University Health Centre , Montreal, QC , Canada.
Front Immunol. 2013 Aug 20;4:242. doi: 10.3389/fimmu.2013.00242. eCollection 2013.
NOD-like receptor proteins (NLRPs) are emerging key players in several inflammatory pathways in Mammals. The first identified gene coding for a protein from this family is Nlrp5 and was originally called Mater for "Maternal Antigen That Mouse Embryos Require" for normal development beyond the two-cell stage. This important discovery was followed by the identification of other NLRPs playing roles in inflammatory disorders and of the first maternal-effect gene in humans, NLRP7, which is responsible for an aberrant form of human pregnancy called hydatidiform mole (HM). In this review, we recapitulate the various aspects of the pathology of HM, highlight recent advances regarding NLRP7 and its role in HM and related forms of reproductive losses, and expand our discussion to other NLRPs with a special emphasis on those with known roles in mammalian reproduction. Our aim is to facilitate the genetic complexity of recurrent fetal loss in humans and encourage interdisciplinary collaborations in the fields of NLRPs and reproductive loss.
NOD 样受体蛋白（NLRPs）是哺乳动物几种炎症途径中新兴的关键参与者。第一个鉴定的编码该家族蛋白的基因是 Nlrp5，最初因其在两细胞期之后的正常发育中称为 Mater，即“母亲抗原，小鼠胚胎需要”。这一重要发现之后，又鉴定出了其他在炎症性疾病中发挥作用的 NLRP 以及人类的第一个母体效应基因 NLRP7，它负责一种称为葡萄胎（HM）的异常形式的人类妊娠。在这篇综述中，我们总结了 HM 病理学的各个方面，强调了 NLRP7 及其在 HM 和相关形式的生殖损失中的作用的最新进展，并将我们的讨论扩展到其他 NLRP，特别强调那些在哺乳动物生殖中具有已知作用的 NLRP。我们的目的是促进人类复发性胎儿丢失的遗传复杂性，并鼓励 NLRP 和生殖损失领域的跨学科合作。
