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Related Experiment Videos

Paget's Disease of Bone.

Luigi Gennari1,2, Domenico Rendina3, Alberto Falchetti4

  • 1Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. luigi.gennari@unisi.it.

Calcified Tissue International
|January 24, 2019
PubMed
Summary

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Paget's disease of bone (PDB) is a complex bone disorder influenced by genetics and environmental factors. Advances in understanding PDB genetics and new treatments like zoledronic acid offer long-term remission for most patients.

Area of Science:

  • Bone biology and genetics
  • Skeletal disorder research
  • Genetic epidemiology

Background:

  • Paget's disease of bone (PDB) is a chronic focal skeletal disorder characterized by abnormal bone remodeling.
  • It leads to bone pain, deformities, arthritis, fractures, and rarely, bone cancers.
  • PDB prevalence and severity are decreasing, but genetic and environmental factors are actively researched.

Purpose of the Study:

  • To review current understanding of Paget's disease of bone (PDB) pathophysiology.
  • To highlight advances in genetic mechanisms and potential environmental triggers.
  • To discuss evolving clinical management strategies for PDB.

Main Methods:

  • Review of epidemiological evidence on PDB prevalence.
  • Analysis of genetic studies identifying mutations (SQSTM1, ZNF687) and predisposing variants.
Keywords:
BisphosphonatesBone painPaget’s disease of boneSQSTM1 gene

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  • Examination of experimental data suggesting viral triggers and clinical trial outcomes for treatments.

    • Main Results:

    • PDB is genetically heterogeneous with identified gene mutations and variants.
    • Environmental factors, possibly paramyxoviruses, may interact with genetic predispositions.
    • Aminobisphosphonates, like zoledronic acid, achieve long-term remission in most PDB patients.

    Conclusions:

    • PDB pathogenesis involves complex genetic and potential environmental interactions.
    • Effective treatments, such as zoledronic acid, have significantly improved patient outcomes.
    • Ongoing research continues to unravel the multifactorial nature of Paget's disease of bone.