蛋白质错误折叠和线粒体功能障碍在玻璃眼中
Arunkumar Venkatesan1, Audrey M Bernstein1,2
1Department of Ophthalmology and Visual Sciences, SUNY Upstate Medical University, Syracuse, NY, United States.
Frontiers in cell and developmental biology
|May 19, 2025
概括
蛋白质错误折叠和线粒体问题有助于开放角眼,导致视网膜质细胞死亡. 针对这些细胞缺陷可能为绿眼病患者提供新的治疗策略.
科学领域:
- 眼科医生 眼科 眼科
- 细胞生物学 细胞生物学
- 遗传学 遗传学 是一个
背景情况:
- 玻璃眼是全球不可逆转失明的主要原因.
- 升高的眼内压力会损害视网膜质细胞 (RGCs).
- 蛋白质折叠和线粒体功能障碍与开放角眼病的病原发生有关.
研究的目的:
- 审查蛋白质折叠缺陷和线粒体功能障碍在POAG,NTG和XFG中的作用.
- 探索这些细胞病理的遗传联系.
- 为了确定眼的潜在治疗点.
主要方法:
- 审查现有的关于青光眼病原学的文献.
- 分析与开角绿眼相关的遗传突变.
- 讨论细胞机制,包括ER压力,UPR,自和线粒体动力学.
主要成果:
- 遗传突变 (MYOC,OPTN,LOXL1) 破坏蛋白质稳态,导致ER压力和亡.
- 线粒体功能障碍,氧化应激和线粒体衰竭有助于RGC死亡和视神经损伤.
- 蛋白质折叠和线粒体缺陷之间的相互作用加剧了玻璃眼病的进展.
结论:
- 细胞压力,蛋白质错折和线粒体功能障碍是青光眼的关键驱动因素.
- 针对蛋白质稳态和线粒体功能的治疗策略显示出神经保护的前景.
- 了解这些复杂的途径对于开发有效的玻璃眼治疗至关重要.
相关概念视频
Glaucoma: Overview
484
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...
484
Translocation of Proteins into the Mitochondria
3.0K
Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
3.0K
Open Angle Glaucoma: Treatment
375
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...
375
Amyloid Fibrils
9.1K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
9.1K
Photoreceptors and Visual Pathways
5.5K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
5.5K
ATP Synthase: Mechanism
13.7K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
13.7K


