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脊柱侧弯:对发育机制和动物模型的见解

Spinal scoliosis: insights into developmental mechanisms and animal models.

作者信息

Yan Chongnan, Jin Guoxin, Li Lei

机构信息

Department of Spine Surgery, Shengjing Hospital of China Medical University, Shenyang, 110004, China.

出版信息

Spine Deform. 2025 Jan;13(1):7-18. doi: 10.1007/s43390-024-00941-9. Epub 2024 Aug 20.

DOI:10.1007/s43390-024-00941-9
PMID:39164474
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11729078/
Abstract

Spinal scoliosis, a prevalent spinal deformity impacting both physical and mental well-being, has a significant genetic component, though the exact pathogenic mechanisms remain elusive. This review offers a comprehensive exploration of current research on embryonic spinal development, focusing on the genetic and biological intricacies governing axial elongation and straightening. Zebrafish, a vital model in developmental biology, takes a prominent role in understanding spinal scoliosis. Insights from zebrafish studies illustrate genetic and physiological aspects, including notochord development and cerebrospinal fluid dynamics, revealing the anomalies contributing to scoliosis. In this review, we acknowledge existing challenges, such as deciphering the unique dynamics of human spinal development, variations in physiological curvature, and disparities in cerebrospinal fluid circulation. Further, we emphasize the need for caution when extrapolating findings to humans and for future research to bridge current knowledge gaps. We hope that this review will be a beneficial frame of reference for the guidance of future studies on animal models and genetic research for spinal scoliosis.

摘要

脊柱侧弯是一种常见的脊柱畸形,会影响身心健康,它具有重要的遗传成分,尽管确切的致病机制仍不清楚。本综述全面探讨了当前关于胚胎脊柱发育的研究,重点关注控制轴向伸长和伸直的遗传和生物学复杂性。斑马鱼是发育生物学中的重要模型,在理解脊柱侧弯方面发挥着重要作用。斑马鱼研究的见解阐明了遗传和生理方面,包括脊索发育和脑脊液动力学,揭示了导致脊柱侧弯的异常情况。在本综述中,我们认识到现有挑战,如解读人类脊柱发育的独特动态、生理曲率的变化以及脑脊液循环的差异。此外,我们强调在将研究结果外推至人类时需要谨慎,以及未来研究弥合当前知识差距的必要性。我们希望本综述将成为指导未来脊柱侧弯动物模型研究和基因研究的有益参考框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5381/11729078/24894cdd13c1/43390_2024_941_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5381/11729078/b49459ff5492/43390_2024_941_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5381/11729078/24894cdd13c1/43390_2024_941_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5381/11729078/b49459ff5492/43390_2024_941_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5381/11729078/24894cdd13c1/43390_2024_941_Fig2_HTML.jpg

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Spinal scoliosis: insights into developmental mechanisms and animal models.脊柱侧弯:对发育机制和动物模型的见解
Spine Deform. 2025 Jan;13(1):7-18. doi: 10.1007/s43390-024-00941-9. Epub 2024 Aug 20.
2
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本文引用的文献

1
Piezo1 mutant zebrafish as a model of idiopathic scoliosis.Piezo1突变斑马鱼作为特发性脊柱侧凸的模型。
Front Genet. 2024 Jan 8;14:1321379. doi: 10.3389/fgene.2023.1321379. eCollection 2023.
2
Compressive stress induces spinal vertebral growth plate chondrocytes apoptosis via Piezo1.压缩应力通过 Piezo1 诱导脊柱骺板软骨细胞凋亡。
J Orthop Res. 2023 Aug;41(8):1792-1802. doi: 10.1002/jor.25527. Epub 2023 Feb 14.
3
The axonemal dynein heavy chain 10 gene is essential for monocilia motility and spine alignment in zebrafish.
轴丝动力蛋白重链 10 基因对于斑马鱼的纤毛运动和脊柱排列至关重要。
Dev Biol. 2022 Feb;482:82-90. doi: 10.1016/j.ydbio.2021.12.001. Epub 2021 Dec 13.
4
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.PIEZO1 相关淋巴管发育不良的扩展表型由两个新的复合杂合变异引起。
Eur J Med Genet. 2021 Oct;64(10):104295. doi: 10.1016/j.ejmg.2021.104295. Epub 2021 Aug 8.
5
Biodiversity-based development and evolution: the emerging research systems in model and non-model organisms.基于生物多样性的发展与进化:模型和非模型生物新兴研究体系。
Sci China Life Sci. 2021 Aug;64(8):1236-1280. doi: 10.1007/s11427-020-1915-y. Epub 2021 Apr 22.
6
A New Hope in Spinal Degenerative Diseases: Piezo1.脊柱退行性疾病的新希望:Piezo1。
Biomed Res Int. 2021 Jan 25;2021:6645193. doi: 10.1155/2021/6645193. eCollection 2021.
7
Skeletal Biology and Disease Modeling in Zebrafish.斑马鱼的骨骼生物学与疾病建模。
J Bone Miner Res. 2021 Mar;36(3):436-458. doi: 10.1002/jbmr.4256. Epub 2021 Feb 18.
8
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.KIF7 基因突变与人类特发性脊柱侧凸和斑马鱼的轴向弯曲有关。
Hum Mutat. 2021 Apr;42(4):392-407. doi: 10.1002/humu.24162. Epub 2021 Feb 7.
9
Postembryonic screen for mutations affecting spine development in zebrafish.胚胎后期斑马鱼脊柱发育突变的筛选。
Dev Biol. 2021 Mar;471:18-33. doi: 10.1016/j.ydbio.2020.11.009. Epub 2020 Dec 5.
10
Development of a straight vertebrate body axis.脊椎动物体轴的直向发育。
Development. 2020 Oct 6;147(21):dev175794. doi: 10.1242/dev.175794.