FOXP4 变异与高原虹膜和角度闭合玻璃眼有关
William Presley1, Su Qing Wang2, Bin Guan3
1Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States.
Investigative ophthalmology & visual science
|July 10, 2025
概括
在FOXP4基因的遗传变异是罕见的风险因素,角闭光眼 (ACG). 这项研究确定了一种特定的FOXP4变异,与ACG和前段发展问题有关.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 视角闭眼 (ACG) 是导致视力丧失的主要原因,其特点是虹膜异常和短轴长度.
- 虽然ACG是遗传的,但其潜在的遗传风险因素在很大程度上仍未知.
- 这项研究的重点在于一家具有ACG,高原虹膜和短轴长度的主导遗传模式的家庭.
研究的目的:
- 为了发现导致疾病的基因,用于角闭光眼 (ACG).
- 调查遗传变异在ACG发展中的作用.
- 在家族队列中识别ACG的新型遗传风险因素.
主要方法:
- 进行了聚合的外基因组测序,以识别编码变异.
- 评估了候选基因FOXP4的时空表达,使用小鼠胚胎中的免疫染.
- 评估了细胞系中FOXP4变异的核定位和转录调节,并分析了大量患者队列的额外变异.
主要成果:
- 在转录因子FOXP4.4中确定了一种可能的致病变体 (c.1433A>G,p.Q478R).
- 在对排水角度至关重要的眼睛结构中,FOXP4的表达很高.
- 已识别的FOXP4变体 (p.Q478R) 作为低形态等位基因,保留转录活性,但表现出细胞质错位,可能表明蛋白质不稳定.
结论:
- FOXP4在前部段的发育中起着至关重要的作用.
- 在FOXP4罕见的变体被确定为风险因素的闭角光眼.
- 对FOXP4的功能进行进一步的研究可能会阐明ACG发病机制.
更多相关视频
07:11Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
6.5K
10:13Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos
Published on: August 9, 2017
7.8K
相关概念视频
01:25Glaucoma: Overview
777
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
777
01:28Angle Closure Glaucoma: Treatment
702
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
702
01:33Pleiotropy
41.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.2K
01:27Open Angle Glaucoma: Treatment
583
In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Drugs such as carbonic anhydrase inhibitors, α2- and...
583
01:11Genetic Lingo
104.9K
Overview
104.9K