FLVCR1 Deficiency Impairs Mitochondrial Homeostasis in Retinal Degeneration: Choline as a Potential Therapy
文献类型：期刊论文
| 作者 | Wang, Yi; Li, Hongjing; Gao, Yingjie; He, Qianxiong; Cai, Jinrui; Zou, Rong; Zhu, Xianjun; Zhang, Lin |
| 刊名 | CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
 |
| 出版日期 | 2025 |
| 关键词 | choline FLVCR1 mitochondrial homeostasis retinal degeneration retinitis pigmentosa |
| 英文摘要 | Background The Feline Leukaemia Virus Subgroup C Receptor 1 (FLVCR1) has been recognized as a heme exporter essential for erythropoiesis, and emerging research identifies its novel function as a choline transporter. Mutations in FLVCR1 have been associated with the pathogenesis of retinitis pigmentosa (RP); however, the roles of FLVCR1 in retina remain unexplored. This study aims to elucidate the connection between FLVCR1 and RP and investigate potential therapeutic interventions.Methods Utilizing CRISPR/Cas9 technology, we established retina-specific Flvcr1 knockout (SKO) and rod-specific Flvcr1 knockout (RKO) mouse models to investigate the in vivo functions of FLVCR1 in the retina. We performed optical coherence tomography (OCT) to assess the retinal thickness, electroretinography (ERG) to test the retinal function and histopathological sections and staining to analyse the pathological changes. Additionally, we administered choline supplementation treatment (CST) to evaluate its potential efficacy in alleviating symptoms of retinal degeneration.Results Genotyping and immunoblotting analyses confirmed the successful establishment of the SKO and RKO mouse models. Retinal degeneration in SKO mice manifested at postnatal day 14, while its onset in RKO mice occurred at P25, including diminished scotopic electroretinogram (ERG) responses, progressive degeneration of photoreceptor cells, infiltration of microglia into the outer nuclear layer (ONL) and disruption of mitochondrial homeostasis. Notably, we found that choline supplementation in RKO mice alleviated the associated phenotypes.Conclusions We developed two innovative mouse models and revealed that FLVCR1 is critical for maintaining mitochondrial homeostasis and supporting photoreceptor survival. Choline supplementation serves as a therapeutic intervention for RP caused by FLVCR1 mutations. |
| 源URL | [http://210.75.249.4/handle/363003/62336]  |
| 专题 | 西北高原生物研究所_中国科学院西北高原生物研究所 |
| 推荐引用方式 GB/T 7714 | Wang, Yi,Li, Hongjing,Gao, Yingjie,et al. FLVCR1 Deficiency Impairs Mitochondrial Homeostasis in Retinal Degeneration: Choline as a Potential Therapy[J]. CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY,2025. |
| APA | Wang, Yi.,Li, Hongjing.,Gao, Yingjie.,He, Qianxiong.,Cai, Jinrui.,...&Zhang, Lin.(2025).FLVCR1 Deficiency Impairs Mitochondrial Homeostasis in Retinal Degeneration: Choline as a Potential Therapy.CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY. |
| MLA | Wang, Yi,et al."FLVCR1 Deficiency Impairs Mitochondrial Homeostasis in Retinal Degeneration: Choline as a Potential Therapy".CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2025). |
入库方式： OAI收割
来源：西北高原生物研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。