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FGF signaling deregulation is associated with early developmental skeletal defects in animal models for

Stefania Bellesso1, Marika Salvalaio2,3, Susanna Lualdi4

  • 1Department of Molecular Medicine, University of Padova, I-35121 Padova, Italy.

Human Molecular Genetics
|April 13, 2018
PubMed

Insights

Mucopolysaccharidosis type II (MPSII) causes skeletal issues due to impaired iduronate-2-sulfatase (IDS) activity. Research shows fibroblast growth factor (FGF) pathway dysfunction contributes to bone defects in MPSII, offering new therapeutic targets.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder characterized by skeletal abnormalities.
  • Current treatments like enzyme replacement therapy (ERT) have limitations in addressing bone defects.
  • The cellular mechanisms underlying MPSII-related bone pathology are not fully understood.

Purpose of the Study:

  • To investigate the role of signaling pathways in MPSII bone defects.
  • To explore the impact of iduronate-2-sulfatase (IDS) deficiency on bone development.
  • To identify potential novel therapeutic targets for MPSII bone disease.

Main Methods:

  • Utilized MPSII animal models (IDS knockout mice and Ids mutant zebrafish).
  • Analyzed fibroblast growth factor (FGF) pathway activity during bone development.
  • Examined FGF signaling markers in patient-derived fibroblasts with various IDS mutations.

Main Results:

  • Impaired FGF pathway activity was observed in early bone development stages in MPSII models.
  • FGF signaling deregulation preceded progressive bone differentiation defects, independent of glycosaminoglycan (GAG) storage.
  • MPSII patient fibroblasts showed altered expression of FGF signaling-related markers.

Conclusions:

  • FGF pathway dysfunction is implicated in the pathogenesis of MPSII skeletal abnormalities.
  • This deregulation occurs early in bone development and contributes to bone defects.
  • Targeting the FGF pathway presents a potential therapeutic strategy for MPSII.

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