软骨细胞外基质基因调控与遗传缺陷研究新进展

doi:10.12372/jcp.2024.23e0827

摘要/Abstract

摘要：

生长板软骨的生长发育是一个精密的生物学过程，受到细胞外基质、细胞内信号、旁分泌信号、内分泌信号等综合调控。细胞外基质在软骨细胞的结构支持中起着关键作用，作为传递生长因子与软骨发育相关信号分子的介质，调节软骨细胞的生长发育。文章对软骨细胞外基质的结构、功能，编码软骨细胞外基质基因的致病性变异影响骨骼发育的机制，以及致病性变异与表型的相关性等方面进行综述，旨在为临床软骨细胞外基质变异造成的遗传缺陷性疾病的诊断和治疗提供理论参考。

关键词: 软骨细胞, 生长板, 细胞外基质, 骨骼发育不良, 遗传缺陷

Abstract:

The formation and development of growth plate cartilage is a sophisticated biological phenomenon that is governed by a combination of extracellular matrix (ECM), intracellular signaling, paracrine signaling and endocrine signaling. The ECM plays a critical role in providing structural support to chondrocytes and acts as a mediator for the transport of growth factors and associated signaling molecules that control chondrocyte growth and development. This review provides a comprehensive examination of the composition and physiological role of the cartilage ECM, explores the impact of pathogenic variants in genes responsible for encoding the cartilage ECM on skeletal development, investigates the specific phenotypes associated with such defects and establishes a correlation between pathogenic gene variants and phenotypic outcomes aiming to provide novels insights for clinical diagnosis and managements.

Key words: chondrocyte, growth plate, extracellular matrix, skeletal dysplasia, genetically defective disorder

金渝瑜, 罗飞宏. 软骨细胞外基质基因调控与遗传缺陷研究新进展[J]. 临床儿科杂志, 2024, 42(2): 164-170.

JIN Yuyu, LUO Feihong. New advances in the study of cartilage extracellular matrix gene regulation and genetic defects[J]. Journal of Clinical Pediatrics, 2024, 42(2): 164-170.

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