Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469, USA.
Department of Biomedical Sciences, College of Osteopathic Medicine, University of New England, Biddeford, ME 04005, USA.
Cells. 2022 Jun 9;11(12):1879. doi: 10.3390/cells11121879.
Primary cilia are crucial for normal cardiac organogenesis via the formation of cyto-architectural, anatomical, and physiological boundaries in the developing heart and outflow tract. These tiny, plasma membrane-bound organelles function in a sensory-integrative capacity, interpreting both the intra- and extra-cellular environments and directing changes in gene expression responses to promote, prevent, and modify cellular proliferation and differentiation. One distinct feature of this organelle is its involvement in the propagation of a variety of signaling cascades, most notably, the Hedgehog cascade. Three ligands, Sonic, Indian, and Desert hedgehog, function as growth factors that are most commonly dependent on the presence of intact primary cilia, where the Hedgehog receptors Patched-1 and Smoothened localize directly within or at the base of the ciliary axoneme. Hedgehog signaling functions to mediate many cell behaviors that are critical for normal embryonic tissue/organ development. However, inappropriate activation and/or upregulation of Hedgehog signaling in postnatal and adult tissue is known to initiate oncogenesis, as well as the pathogenesis of other diseases. The focus of this review is to provide an overview describing the role of Hedgehog signaling and its dependence upon the primary cilium in the cell types that are most essential for mammalian heart development. We outline the breadth of developmental defects and the consequential pathologies resulting from inappropriate changes to Hedgehog signaling, as it pertains to congenital heart disease and general cardiac pathophysiology.
初级纤毛对于心脏和流出道的正常发育至关重要,通过在心脏发育和流出道中形成细胞结构、解剖和生理边界。这些微小的、质膜结合的细胞器具有感应-整合功能,可同时解读细胞内和细胞外环境,并指导基因表达反应的变化,以促进、预防和改变细胞增殖和分化。该细胞器的一个显著特征是它参与了多种信号转导途径的传播,尤其是 Hedgehog 途径。三种配体 Sonic、Indian 和 Desert Hedgehog 作为生长因子发挥作用,通常依赖于完整的初级纤毛的存在,Hedgehog 受体 patched-1 和 smoothened 直接定位于纤毛轴突的内部或底部。 Hedgehog 信号转导对于介导许多对正常胚胎组织/器官发育至关重要的细胞行为至关重要。然而,已知 Hedgehog 信号在出生后和成年组织中的异常激活和/或上调会引发肿瘤发生以及其他疾病的发病机制。本综述的重点是提供一个概述,描述 Hedgehog 信号及其对哺乳动物心脏发育中最重要的细胞类型的初级纤毛的依赖性的作用。我们概述了由于 Hedgehog 信号的不适当变化而导致的发育缺陷的广泛性和随之而来的病理,因为它与先天性心脏病和一般心脏病理生理学有关。