Calcium-Binding Protein 4 Is Fundamental for Retinal Structure and Function.

4区 医学 Q2 Biochemistry, Genetics and Molecular Biology
Billie Beckwith-Cohen, Simon M Petersen-Jones
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引用次数: 0

Abstract

Calcium-binding proteins (CaBPs) are a subfamily of calmodulin-like proteins, that modulate presynaptic calcium-dependent interactions with voltage-gated calcium channels. CaBPs play crucial roles in the development of normal sensorineural structure and function in both the visual and auditory systems. Disruption of CaBPs can result in a range of synaptic disorders of varying severity, which are dependent on the proteins or isoforms that predominate the affected system. In the retina, CaBP4 seems to be the isoform that is most important for the development of structure and function of the photoreceptor to ON bipolar synapse. Absence of CaBP4 results in synaptic ribbon immaturity in the first retinal synapse, disruption of ON-bipolar cell-driven responses, and a structurally thin outer plexiform layer. It has recently been demonstrated that at least some of the functional and anatomic disruption caused by CaBP mutations can be successfully addressed with gene augmentation therapy both in the eye and ear.

钙结合蛋白4是视网膜结构和功能的基础。
钙结合蛋白(CaBPs)是钙调蛋白样蛋白的一个亚家族,可调节突触前钙依赖性与电压门控钙通道的相互作用。cabp在视觉和听觉系统的正常感觉神经结构和功能的发展中起着至关重要的作用。cabp的破坏可导致一系列不同严重程度的突触疾病,这些疾病依赖于占主导地位的受影响系统的蛋白质或同种异构体。在视网膜中,CaBP4似乎是对ON双极突触的光感受器的结构和功能发育最重要的同工异构体。CaBP4的缺失导致第一视网膜突触的突触带不成熟,ON-bipolar细胞驱动的反应被破坏,结构上薄的外网状层。最近的研究表明,至少一些由CaBP突变引起的功能和解剖破坏可以通过眼睛和耳朵的基因增强治疗成功地解决。
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来源期刊
Advances in experimental medicine and biology
Advances in experimental medicine and biology 医学-医学:研究与实验
CiteScore
5.90
自引率
0.00%
发文量
465
审稿时长
2-4 weeks
期刊介绍: Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.
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