Plyler Z E, Birket S E, Schultz B D, Hong J S, Rowe S M, Petty C F, Crowley M R, Crossman D K, Schoeb T R, Sorscher E J
Department of Biology, University of Alabama at Birmingham, Birmingham, AL, USA.
Division of Pulmonary, Allergy and Critical Care Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Mech Dev. 2019 Feb;155:15-26. doi: 10.1016/j.mod.2018.10.002. Epub 2018 Nov 2.
This study utilizes morphological and mechanistic endpoints to characterize the onset of bilateral atresia of the vas deferens in a recently derived cystic fibrosis (CF) rat model. Embryonic reproductive structures, including Wolffian (mesonephric) duct, Mullerian (paramesonephric) duct, mesonephric tubules, and gonad, were shown to mature normally through late embryogenesis, with involution of the vas deferens and/or epididymis typically occurring between birth and postnatal day 4 (P4), although timing and degree of atresia varied. No evidence of mucus obstruction, which is associated with pathology in other CF-affected tissues, was observed at any embryological or postnatal time point. Reduced epididymal coiling was noted post-partum and appeared to coincide with, or predate, loss of more distal vas deferens structure. Remarkably, α smooth muscle actin expression in cells surrounding duct epithelia was markedly diminished in CF animals by P2.5 when compared to wild type counterparts, indicating reduced muscle development. RNA-seq and immunohistochemical analysis of affected tissues showed disruption of developmental signaling by Wnt and related pathways. The findings have relevance to vas deferens loss in humans with CF, where timing of ductular damage is not well characterized and underlying mechanisms are not understood. If vas deferens atresia in humans begins in late gestation and continues through early postnatal life, emerging modulator therapies given perinatally might preserve and enhance integrity of the reproductive tract, which is otherwise absent or deficient in 97% of males with cystic fibrosis.
本研究利用形态学和机制学终点来表征最近构建的囊性纤维化(CF)大鼠模型中双侧输精管闭锁的发病情况。胚胎生殖结构,包括沃尔夫管(中肾管)、缪勒管(副中肾管)、中肾小管和性腺,在胚胎发育后期均正常成熟,输精管和/或附睾的退化通常发生在出生至出生后第4天(P4)之间,尽管闭锁的时间和程度有所不同。在任何胚胎学或出生后时间点均未观察到与其他CF受累组织病理相关的黏液阻塞证据。产后发现附睾盘绕减少,且似乎与更远端输精管结构的丧失同时发生或早于其丧失。值得注意的是,与野生型相比,CF动物在出生后第2.5天(P2.5)时,导管上皮周围细胞中的α平滑肌肌动蛋白表达明显减少,表明肌肉发育受损。对受影响组织的RNA测序和免疫组织化学分析显示,Wnt及相关信号通路的发育信号受到破坏。这些发现与CF患者的输精管丧失有关,在CF患者中,导管损伤的时间尚不明确,其潜在机制也不清楚。如果人类输精管闭锁始于妊娠晚期并持续至出生后早期,那么围产期给予新出现的调节疗法可能会保留并增强生殖道的完整性,否则97%的囊性纤维化男性患者的生殖道会缺失或发育不全。