骨骼和骨骼外骨发育不全特征的斑马鱼模型:揭示病理生理学,为药物发现铺平道路。

IF 3.3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM
Calcified Tissue International Pub Date : 2024-12-01 Epub Date: 2024-09-25 DOI:10.1007/s00223-024-01282-5
Cecilia Masiero, Carla Aresi, Antonella Forlino, Francesca Tonelli
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引用次数: 0

摘要

在过去的几十年中,斑马鱼因其易于遗传操作、体外受精、与人类基因同源性高以及与啮齿类动物相比饲养成本低等特点,成为研究人类疾病和开发新治疗策略的有效模型。由于斑马鱼与哺乳动物具有相同的骨细胞和骨化类型,因此被广泛用于研究常见和罕见骨病(如骨质疏松症和成骨不全症(OI))的发病机制和可能的新治疗方法。成骨不全症是一种遗传性骨骼疾病,由编码胶原蛋白 I 或合成和分泌胶原蛋白 I 所必需的蛋白质/酶的基因缺陷引起。然而,OI 患者也可能有骨骼以外的表现,如牙本质发育不全、肌肉无力、心脏瓣膜和肺部异常以及皮肤松弛。在这篇综述中,我们概述了现有的显性和隐性OI斑马鱼模型。此外,还将讨论斑马鱼与哺乳动物骨骼、肌肉、心脏和皮肤之间所有主要异同点的最新描述。最后,还将介绍一系列高通量和低通量技术,这些技术可用于将 OI 斑马鱼幼体和成体模型作为发现新治疗方法的独特工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.

In the last decades, the easy genetic manipulation, the external fertilization, the high percentage of homology with human genes and the reduced husbandry costs compared to rodents, made zebrafish a valid model for studying human diseases and for developing new therapeutical strategies. Since zebrafish shares with mammals the same bone cells and ossification types, it became widely used to dissect mechanisms and possible new therapeutic approaches in the field of common and rare bone diseases, such as osteoporosis and osteogenesis imperfecta (OI), respectively. OI is a heritable skeletal disorder caused by defects in gene encoding collagen I or proteins/enzymes necessary for collagen I synthesis and secretion. Nevertheless, OI patients can be also characterized by extraskeletal manifestations such as dentinogenesis imperfecta, muscle weakness, cardiac valve and pulmonary abnormalities and skin laxity. In this review, we provide an overview of the available zebrafish models for both dominant and recessive forms of OI. An updated description of all the main similarities and differences between zebrafish and mammal skeleton, muscle, heart and skin, will be also discussed. Finally, a list of high- and low-throughput techniques available to exploit both larvae and adult OI zebrafish models as unique tools for the discovery of new therapeutic approaches will be presented.

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来源期刊
Calcified Tissue International
Calcified Tissue International 医学-内分泌学与代谢
CiteScore
8.00
自引率
2.40%
发文量
112
审稿时长
4-8 weeks
期刊介绍: Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.
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