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Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

American journal of medical genetics. Part A·2024
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Translating multiscale research in rare disease.

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RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.

Katherine A Rauen1,2, William E Tidyman2

  • 1Department of Pediatrics, Division of Genomic Medicine, University of California Davis, Sacramento, CA, 95817, USA.

Disease Models & Mechanisms
|June 7, 2024
PubMed
Summary
This summary is machine-generated.

RASopathies, genetic disorders affecting the RAS/MAPK pathway, cause severe developmental issues. This review explores their impact on skeletal muscle development and potential therapeutic strategies using pathway inhibitors.

Keywords:
Cardio-facio-cutaneous syndromeCostello syndromeMyopathyNeurofibromatosis type 1RAS pathwayRASopathyRare disorderSkeletal myogenesisTreatment

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • RASopathies are rare genetic syndromes resulting from mutations in the RAS/MAPK pathway.
  • Collectively, RASopathies are a significant group of congenital anomaly syndromes with severe developmental outcomes.
  • Dysregulation of the RAS/MAPK pathway profoundly impacts skeletal muscle development.

Purpose of the Study:

  • To review the effects of RAS/MAPK pathway dysregulation on skeletal muscle development in RASopathies.
  • To highlight the critical role of RAS/MAPK signaling in embryonic myogenesis.
  • To explore therapeutic opportunities for RASopathy-associated myopathies.

Main Methods:

  • Literature review of RASopathies and their impact on skeletal muscle.
  • Analysis of RAS/MAPK pathway interactions in myogenesis.
  • Discussion of findings from RASopathy animal models.

Main Results:

  • RAS/MAPK pathway dysregulation is a key factor in the skeletal myopathy observed in RASopathies.
  • Embryonic myogenesis is highly sensitive to the regulation of the RAS/MAPK pathway.
  • Complex signaling interactions influence skeletal muscle development and growth in these syndromes.

Conclusions:

  • Understanding RAS/MAPK pathway dysregulation is crucial for addressing skeletal muscle defects in RASopathies.
  • RASopathy animal models offer a platform for testing novel therapeutic interventions, including pathway inhibitors.
  • Targeting the RAS/MAPK pathway presents a promising avenue for treating RASopathy-associated myopathies.