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Bone health in RASopathies.

David A Stevenson1, Germana Viscogliosi2, Chiara Leoni2

  • 1Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|December 3, 2022
PubMed
Summary

RASopathies, genetic disorders affecting the Ras/MAPK pathway, often cause bone density issues like osteopenia and osteoporosis. Understanding these bone defects is crucial for developing targeted therapies to improve skeletal health in affected individuals.

Keywords:
RASopathybone densityfracturesosteopeniapersonalize medical carepseudarthrosis

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Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology and Metabolism
  • Skeletal Biology

Background:

  • RASopathies are a group of genetic disorders linked to the Ras/MAPK signaling pathway.
  • These conditions frequently present with overlapping clinical features, including musculoskeletal abnormalities.
  • Osteopenia and osteoporosis are commonly observed in RASopathies, suggesting a shared underlying mechanism affecting bone health.

Purpose of the Study:

  • To investigate the clinical impact of bone mineralization defects in various RASopathies.
  • To explore the role of the Ras/MAPK pathway in bone cellular function.
  • To highlight the need for detailed musculoskeletal phenotyping to guide therapeutic development.

Main Methods:

  • Literature review of reported cases of osteopenia, osteoporosis, and fractures in RASopathies.
  • Analysis of genetic variants within the Ras/MAPK pathway associated with bone abnormalities.
  • Review of existing musculoskeletal phenotyping data across different RASopathies.

Main Results:

  • Osteopenia and osteoporosis are frequently reported in RASopathies, indicating a significant skeletal manifestation.
  • Fractures have been documented, underscoring the clinical relevance of impaired bone health.
  • The precise impact of these bone defects on the skeleton across different RASopathies remains poorly understood.

Conclusions:

  • The Ras/MAPK pathway plays a critical role in bone health, and its dysregulation contributes to skeletal fragility in RASopathies.
  • Further research into bone cellular function and comprehensive musculoskeletal phenotyping is essential.
  • Developing targeted therapies to improve bone health is a critical unmet need for patients with RASopathies.