Department of Pharmacology, College of Medicine, The Ohio State University, Columbus, OH 43210, USA.
Cell Mol Life Sci. 2010 Oct;67(19):3287-97. doi: 10.1007/s00018-010-0425-4. Epub 2010 Jun 11.
Primary cilia are a class of cilia that are typically solitary, immotile appendages present on nearly every mammalian cell type. Primary cilia are believed to perform specialized sensory and signaling functions that are important for normal development and cellular homeostasis. Indeed, primary cilia dysfunction is now linked to numerous human diseases and genetic disorders. Collectively, primary cilia disorders are termed as ciliopathies and present with a wide range of clinical features, including cystic kidney disease, retinal degeneration, obesity, polydactyly, anosmia, intellectual disability, and brain malformations. Although significant progress has been made in elucidating the functions of primary cilia on some cell types, the precise functions of most primary cilia remain unknown. This is particularly true for primary cilia on neurons throughout the mammalian brain. This review will introduce primary cilia and ciliary signaling pathways with a focus on neuronal cilia and their putative functions and roles in human diseases.
原发性纤毛是一类纤毛,通常是单一的、无动力的附属物,存在于几乎所有哺乳动物细胞类型中。原发性纤毛被认为具有特殊的感觉和信号功能,对正常发育和细胞内稳态很重要。事实上,原发性纤毛功能障碍现在与许多人类疾病和遗传障碍有关。原发性纤毛疾病统称为纤毛病,具有广泛的临床特征,包括囊性肾病、视网膜变性、肥胖、多指畸形、嗅觉丧失、智力障碍和脑畸形。尽管在阐明某些细胞类型的原发性纤毛功能方面已经取得了重大进展,但大多数原发性纤毛的精确功能仍然未知。这在整个哺乳动物大脑中的神经元原发性纤毛中尤其如此。本文将介绍原发性纤毛和纤毛信号通路,重点介绍神经元纤毛及其在人类疾病中的潜在功能和作用。