Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078 Pozzuoli, Naples, Italy.
Medical Genetics, Department of Translational Medical Sciences, Federico II University of Naples, Via Sergio Pansini 5, 80131 Naples, Italy.
Cells. 2019 Aug 15;8(8):905. doi: 10.3390/cells8080905.
Primary cilia are microtubule-based organelles protruding from the surface of almost all vertebrate cells. This organelle represents the cell's antenna which acts as a communication hub to transfer extracellular signals into intracellular responses during development and in tissue homeostasis. Recently, it has been shown that loss of cilia negatively regulates autophagy, the main catabolic route of the cell, probably utilizing the autophagic machinery localized at the peri-ciliary compartment. On the other side, autophagy influences ciliogenesis in a context-dependent manner, possibly to ensure that the sensing organelle is properly formed in a feedback loop model. In this review we discuss the recent literature and propose that the autophagic machinery and the ciliary proteins are functionally strictly related to control both autophagy and ciliogenesis. Moreover, we report examples of diseases associated with autophagic defects which cause cilia abnormalities, and propose and discuss the hypothesis that, at least some of the clinical manifestations observed in human diseases associated to ciliary disfunction may be the result of a perturbed autophagy.
原发性纤毛是从几乎所有脊椎动物细胞表面伸出的微管为基础的细胞器。这个细胞器代表了细胞的天线，作为一个通讯枢纽，在发育和组织稳态过程中，将细胞外信号转导为细胞内反应。最近的研究表明，纤毛的缺失会负调控细胞的主要降解途径——自噬，可能是利用定位于纤毛旁区间室的自噬机制。另一方面，自噬以依赖于上下文的方式影响纤毛发生，可能是为了确保在反馈回路模型中适当形成感知细胞器。在这篇综述中，我们讨论了最近的文献，并提出自噬机制和纤毛蛋白在功能上与控制自噬和纤毛发生密切相关。此外，我们报告了与自噬缺陷相关的疾病的例子，这些疾病导致纤毛异常，并提出和讨论了这样一种假设，即至少一些与纤毛功能障碍相关的人类疾病的临床表现可能是自噬失调的结果。
