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视网膜鲨烯醇代谢的研究进展,以及与鲨烯醇代谢相关的遗传性疾病的视觉缺陷。

Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders.

机构信息

Departments of Ophthalmology and Biochemistry, and Neuroscience Graduate Program, Jacobs School of Medicine and Biomedical Sciences, State University of New York, Buffalo, NY, USA.

Research Service, VA Western NY Healthcare System, Buffalo, NY, USA.

出版信息

Adv Exp Med Biol. 2023;1415:449-456. doi: 10.1007/978-3-031-27681-1_66.

Abstract

De novo synthesis of dolichol (Dol) and dolichyl phosphate (Dol-P) is essential for protein glycosylation. Herein, we provide a brief overview of Dol and Dol-P synthesis and the maintenance of their cellular content. Retinal Dol metabolism and the requirement of Dol-linked oligosaccharide synthesis in the neural retina also are discussed. There are recently discovered and an emerging class of rare congenital disorders that affect Dol metabolism, involving the genes DHDDS, NUS1, SRD5A3, and DOLK. Further understanding of these congenital disorders is evolving, based upon studies utilizing yeast and murine models, as well as clinical reports of these rare disorders. We summarize the known visual deficits associated with Dol metabolism disorders, and identify the need for generation and characterization of suitable animal models of these disorders to elucidate the underlying molecular and cellular mechanisms of the associated retinopathies.

摘要

从头合成 Dolichol(Dol)和 Dolichyl phosphate(Dol-P)对于蛋白质糖基化至关重要。本文简要概述了 Dol 和 Dol-P 的合成以及它们的细胞内含量的维持。还讨论了视网膜 Dol 的代谢以及神经视网膜中 Dol 连接寡糖合成的需求。最近发现了一类新的罕见先天性疾病,影响 Dol 代谢,涉及 DHDDS、NUS1、SRD5A3 和 DOLK 基因。基于酵母和小鼠模型的研究以及这些罕见疾病的临床报告,对这些先天性疾病的进一步了解正在不断发展。我们总结了与 Dol 代谢紊乱相关的已知视觉缺陷,并确定需要生成和表征这些疾病的合适动物模型,以阐明相关视网膜病变的潜在分子和细胞机制。

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