Literature Review

New advances in the study of cartilage extracellular matrix gene regulation and genetic defects

  • Yuyu Reviewer: JIN ,
  • Feihong Reviser: LUO
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  • Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai 201102, China

Received date: 2023-08-29

  Online published: 2024-02-02

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.

Cite this article

Yuyu Reviewer: JIN , Feihong Reviser: LUO . New advances in the study of cartilage extracellular matrix gene regulation and genetic defects[J]. Journal of Clinical Pediatrics, 2024 , 42(2) : 164 -170 . DOI: 10.12372/jcp.2024.23e0827

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