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Related Experiment Video

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Functional Characterization of Endogenously Expressed Human RYR1 Variants
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RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

Daniele Sabbatini1,2, Domenico Gorgoglione1, Giovanni Minervini3

  • 1Neuromuscular Unit, Department of Neuroscience, University of Padova, 35128 Padova, Italy.

Biomolecules
|November 27, 2025
PubMed
Summary
This summary is machine-generated.

Ryanodine receptor 1-related myopathies (RYR1-RM) involve complex gene regulation. RYR1 variants impact cellular pathways like oxidative stress and immune activation, suggesting shared mechanisms and potential therapeutic targets in central core disease (CCD) and multi-minicore disease (MmD).

Keywords:
CCDMmDRNASeqRYR1RYR1-RMskeletal muscle diseases

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Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Cellular Biology

Background:

  • Ryanodine receptor 1-related myopathies (RYR1-RM) encompass diverse conditions stemming from RYR1 gene variants.
  • This study specifically examines RYR1-RM patients with central core disease (CCD) or multi-minicore disease (MmD) histopathology.

Purpose of the Study:

  • To investigate the molecular pathways affected by RYR1 variants in CCD and MmD using RNA sequencing.
  • To identify common and distinct molecular mechanisms underlying different RYR1-RM phenotypes.

Main Methods:

  • RNA sequencing of skeletal muscle biopsies from CCD, MmD patients, and healthy controls.
  • Bioinformatic analysis to identify differentially expressed genes and enriched pathways.

Main Results:

  • CCD patients showed enrichment in oxidative stress response, SMAD signalling, and apoptosis pathways.
  • MmD patients exhibited enrichment in immune activation pathways, with altered GTPase-regulating genes and transcriptional repressors.
  • Shared pathways across RYR1-RM phenotypes included Wnt signalling, immune responses, and oxidative phosphorylation.

Conclusions:

  • RYR1 variants induce complex gene regulation impacting distinct cellular pathways in CCD and MmD.
  • Convergent molecular mechanisms, including Wnt signalling and immune pathways, may underlie different RYR1-RM presentations.
  • Understanding these pathways offers new insights into potential therapeutic strategies for RYR1-related myopathies.