Ophthalmology and Biochemistry, Center for Neuroscience, Eye Institute, West Virginia University, One Stadium Drive, Room number E363, 26506, Morgantown, WV, USA,
Adv Exp Med Biol. 2014;801:43-8. doi: 10.1007/978-1-4614-3209-8_6.
Mutations in Aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to Leber congenital amaurosis (LCA), a severe blinding disease that occurs in early childhood. The severity of disease is due to requirement for AIPL1 in both rod and cone photoreceptor cell survival and function. Aipl1 is expressed very early during retinal development in both rods and cones. In adult primates, robust expression of Aipl1 is found in rods but not in cones. Mouse models revealed the importance of AIPL1 in stability and function of heteromeric phosphodiesterase 6 (PDE6), an enzyme needed for visual response. However, the need for AIPL1 in cone cell survival and function is not clearly understood. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.
Aryl hydrocarbon receptor interacting protein like-1 (AIPL1) 突变与莱伯先天性黑蒙症（LCA）有关，这是一种严重的致盲疾病，通常在儿童早期发病。疾病的严重程度是由于 AIPL1 在视杆和视锥感光细胞的存活和功能中都是必需的。在视网膜发育的早期，Aipl1 在视杆和视锥中都有表达。在成年灵长类动物中，Aipl1 在视杆细胞中大量表达，但在视锥细胞中不表达。小鼠模型揭示了 AIPL1 在异源磷酸二酯酶 6（PDE6）的稳定性和功能中的重要性，PDE6 是视觉反应所必需的一种酶。然而，AIPL1 对于视锥细胞存活和功能的必要性尚不清楚。在本章中，我们将使用多种动物模型的结果来讨论 AIPL1 在感光细胞中的作用。
