[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]

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Updated: Jun 8, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Hiroyuki Tanaka1

  • 1Department of Pediatrics, Okayama Saiseikai General Hospital.

Clinical Calcium
|October 5, 2010
PubMed

Insights

Fibroblast growth factor receptor 3 (FGFR3) mutations cause achondroplasia by disrupting cartilage growth. Recent findings on loss-of-function mutations offer new insights into FGFR3-related skeletal disorders.

Area of Science:

  • Skeletal biology and genetics
  • Molecular and cellular biology

Context:

  • Fibroblast growth factor receptor 3 (FGFR3) is implicated in growth plate cartilage development.
  • FGFR3 mutations are a primary cause of achondroplasia, a common skeletal dysplasia.
  • The pathogenesis involves the suppression of the parathyroid hormone (PTHrP)-PTH receptor (PTHR) system via ERK activation.

Purpose:

  • To review the current understanding of FGFR3-related chondrodysplasia pathogenesis.
  • To highlight recent discoveries concerning loss-of-function mutations and their phenotypic consequences.

Summary:

  • Constitutively active FGFR3 leads to ERK activation, suppressing the PTHrP-PTHR system and causing achondroplasia.
  • The intracellular signaling of FGFR3 is complex and not fully elucidated.
  • Newly identified human loss-of-function mutations in FGFR3 provide novel insights into genotype-phenotype correlations and receptor function.

Impact:

  • Advances understanding of skeletal dysplasias.
  • Provides a foundation for exploring therapeutic targets for FGFR3-related disorders.
  • Clarifies the intricate relationship between FGFR3 signaling and skeletal development.

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