对视觉神经病变的遗传和表型复杂性的洞察
Fabiana D'Esposito1,2, Marco Zeppieri3, Maria Francesca Cordeiro1,4
1Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London NW1 5QH, UK.
Genes
|January 8, 2025
概括
遗传和分子洞察力正在推动视觉神经病变的理解和治疗,如主导性视觉缩 (DOA) 和勒伯遗传性视觉神经病变 (LHON). 个性化医疗和新疗法为改善患者治疗结果提供了希望.
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:
- 视神经病变会导致视神经受损,导致视力丧失.
- 诸如主导视力缩 (DOA),勒伯遗传性视力神经病变 (LHON) 和绿眼等疾病具有复杂的遗传基础.
- 了解这些遗传和分子基础对于诊断和治疗至关重要.
研究的目的:
- 审查目前关于视觉神经病变的遗传和分子机制的知识.
- 检查这些疾病中的基因型-表型相关性.
- 评估视力保护的新兴治疗策略.
主要方法:
- 在2024年10月进行了一次系统的文献审查.
- 搜索的数据库包括PubMed,Medline,Cochrane图书馆和clinicalTrials.gov.gov. 这些数据库的搜索内容包括:
- 关键词集中在视神经病变,遗传变异,特定疾病 (LHON,DOA,青光眼) 和分子疗法.
主要成果:
- DOA和LHON分别与核 (OPA1) 和mtDNA变异的线粒体功能障碍有关.
- 玻璃眼包括MYOC,OPTN和TBK1.1等基因的变异.
- 氧化应激和炎症是关键的分子通路;基因疗法,RNA治疗和抗氧化剂显示出治疗的前景.
结论:
- 遗传和分子研究显著改善了对视神经病变的理解.
- 整合遗传和表型数据对于个性化治疗方法至关重要.
- 需要进一步的研究来完善治疗方法和阐明疾病机制,以获得更好的患者结果.
相关概念视频
Anatomy of the Eyeball
5.9K
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle...
5.9K
Photoreceptors and Visual Pathways
5.6K
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,...
5.6K
Genetic Lingo
100.8K
Overview
100.8K
Glaucoma: Overview
502
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...
502
Vision
52.9K
Vision is the result of light being detected and transduced into neural signals by the retina of the eye. This information is then further analyzed and interpreted by the brain. First, light enters the front of the eye and is focused by the cornea and lens onto the retina—a thin sheet of neural tissue lining the back of the eye. Because of refraction through the convex lens of the eye, images are projected onto the retina upside-down and reversed.
52.9K
Pleiotropy
39.7K
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,...
39.7K


