Shihan Mahbubul H, Balasubramanian Ramachandran, Wang Yan, Rafi Rabiul, Faranda Adam P, Parreno Justin, Varadaraj Kulandaiappan, Gao Junyuan, Mathias Richard T, Nie Xingju, Duncan Melinda K
Department of Biological Sciences, University of Delaware, Newark, DE, 19716, USA.
Department of Physiology & Biophysics, Stonybrook University, Stony Brook, NY, 11777, USA.
Exp Eye Res. 2025 Jun;255:110347. doi: 10.1016/j.exer.2025.110347. Epub 2025 Mar 18.
Genes regulate, maintain, and fine-tune the structural organization and physiological homeostasis of the lens and therefore influence lens transparency. RNAseq profiling of the mouse lens revealed that the Cd24a gene, which encodes the mucin-like GPI-linked membrane protein CD24, is abundantly expressed in the lens. Immunolocalization revealed that CD24 protein is abundant at mouse lens fiber cell membranes from early lens development into adulthood, while in adult human lenses, CD24 protein was detected in both the lens epithelium and fibers. Analysis of mice lacking the Cd24a gene revealed that the lens develops normally and is transparent with normal morphology until 2 months of age. However, older Cd24a null mice have smaller than normal lenses which exhibit abnormal fiber cell structure, actin filament disorganization, and refractive defects that lead to premature cataract development by 1 year of age. By integrating RNA sequencing, immunofluorescence, and magnetic resonance imaging, we found that the aquaporin 1 gene that regulates lens epithelial water transport is downregulated and the protein gradient that mediates the lenses refractive properties is altered in aged Cd24a null lenses that exhibit cataract. However, experiments on intracellular gap junction coupling and hydrostatic pressure in 2 month old lenses found no differences between control and Cd24a null lenses, suggesting that the later lens defects do not arise from primary issues with the lens circulation. Overall, our study found that CD24 plays a key role in maintaining the structural organization and refractive properties of the adult lens.
基因调控、维持并微调晶状体的结构组织和生理稳态,因此影响晶状体的透明度。对小鼠晶状体的RNA测序分析显示,编码黏蛋白样糖基磷脂酰肌醇连接膜蛋白CD24的Cd24a基因在晶状体中大量表达。免疫定位显示,从晶状体早期发育到成年期,CD24蛋白在小鼠晶状体纤维细胞膜上大量存在,而在成年人晶状体中,CD24蛋白在晶状体上皮和纤维中均有检测到。对缺乏Cd24a基因的小鼠的分析显示,晶状体在2月龄前发育正常,形态正常且透明。然而,年龄较大的Cd24a基因敲除小鼠的晶状体比正常小鼠的小,表现出纤维细胞结构异常、肌动蛋白丝紊乱以及屈光缺陷,到1岁时会导致白内障过早形成。通过整合RNA测序、免疫荧光和磁共振成像,我们发现,在出现白内障的老年Cd24a基因敲除晶状体中,调节晶状体上皮水转运的水通道蛋白1基因表达下调,介导晶状体屈光特性的蛋白梯度发生改变。然而,对2月龄晶状体的细胞内间隙连接耦合和静水压力实验发现,对照晶状体和Cd24a基因敲除晶状体之间没有差异,这表明后期的晶状体缺陷并非源于晶状体循环的原发性问题。总体而言,我们的研究发现,CD24在维持成年晶状体的结构组织和屈光特性方面起关键作用。