Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA 92093-0665, USA.
Neurobiol Dis. 2010 May;38(2):167-72. doi: 10.1016/j.nbd.2009.12.022. Epub 2010 Jan 22.
The "ciliopathies" are a newly defined group of disorders characterized by defects in the structure or function of the cellular primary cilium. Patients with these disorders display variably expressive fibrocystic renal disease, retinal blindness, polydactyly, obesity, and brain dysgenesis as well as neurocognitive impairments. Joubert syndrome is a ciliopathy defined by cerebellar vermis hypoplasia, oculomotor apraxia, intermittent hyperventilation, and mental retardation. Recent evidence suggests important roles for the primary cilium in mediating a host of extracellular signaling events such as morphogen, mitogen, homeostatic and polarity signals. Based upon the clinical features of ciliopathies and cilia mediated signaling pathways, the data support a role for the primary cilium in modulating neurogenesis, cell polarity, axonal guidance and possibly adult neuronal function.
“纤毛病”是一组新定义的疾病，其特征是细胞初级纤毛的结构或功能缺陷。这些疾病的患者表现出不同程度的纤维囊性肾病、视网膜盲、多指（趾）畸形、肥胖和脑发育不良以及神经认知障碍。杰特综合征是一种纤毛病，其特征是小脑蚓部发育不良、眼球运动不能、间歇性通气过度和智力迟钝。最近的证据表明，初级纤毛在介导多种细胞外信号事件中起着重要作用，如形态发生素、有丝分裂原、稳态和极性信号。基于纤毛病和纤毛介导的信号通路的临床特征，数据支持初级纤毛在调节神经发生、细胞极性、轴突导向和可能的成年神经元功能中的作用。
