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RYR1 -Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

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Τίτλος: RYR1 -Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Συγγραφείς: Sabbatini, Daniele, Gorgoglione, Domenico, Minervini, Giovanni, Fusto, Aurora, Suman, Matteo, Romualdi, Chiara, Vianello, Sara, Capece, Giuliana, Sorarù, Gianni, Marchioretti, Caterina, Pennuto, Maria, Vedovelli, Luca, Szabadkai, Gyorgy, Bello, Luca, Pegoraro, Elena
Πηγή: Biomolecules (2218-273X); Nov2025, Vol. 15 Issue 11, p1599, 28p
Θεματικοί όροι: Ryanodine receptors, Oxidative stress, Genetic regulation, Drug target, Immune response, Transcriptomes, Intracellular calcium, Muscle diseases
Περίληψη: Ryanodine receptor 1-related myopathies (RYR1-RM) are caused by RYR1 gene variants and comprise a wide spectrum of histopathological manifestations. Here, we focus on patients carrying RYR1 variants and muscle histopathology consistent with central core disease (CCD) or multi-minicore disease (MmD). RNA-sequencing analyses of skeletal muscle biopsies obtained from both CCD and MmD patients and from healthy controls were performed to better understand the molecular pathways activated by RYR1 variants. Our analyses revealed that, beyond the well-established role of RYR1 in calcium homeostasis, broader cellular pathways are implicated. In CCD, differentially expressed genes were enriched for pathways related to oxidative stress response, SMAD signalling, and apoptosis, consistent with the role of intracellular calcium dysregulation in promoting mitochondrial dysfunction and cell death. In contrast, MmD patients exhibited enrichment of pathways related to immune activation. This was corroborated by the upregulation of GTPase-regulating genes and the down-regulation of transcriptional repressors such as ZFP36 and ATN1. When considering all RYR1-RM patients collectively, Wnt signalling, immune-related pathways, and oxidative phosphorylation emerged as shared enriched pathways, indicating possible convergent mechanisms across histopathological phenotypes. Our study suggests that complex gene regulation driven by RYR1 variants may be a unifying feature in CCD and MmD, offering new insight into potential therapeutic targets. [ABSTRACT FROM AUTHOR]
Copyright of Biomolecules (2218-273X) is the property of MDPI and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Βάση Δεδομένων: Complementary Index
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  Data: RYR1 -Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
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  Data: <searchLink fieldCode="DE" term="%22Ryanodine+receptors%22">Ryanodine receptors</searchLink><br /><searchLink fieldCode="DE" term="%22Oxidative+stress%22">Oxidative stress</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+regulation%22">Genetic regulation</searchLink><br /><searchLink fieldCode="DE" term="%22Drug+target%22">Drug target</searchLink><br /><searchLink fieldCode="DE" term="%22Immune+response%22">Immune response</searchLink><br /><searchLink fieldCode="DE" term="%22Transcriptomes%22">Transcriptomes</searchLink><br /><searchLink fieldCode="DE" term="%22Intracellular+calcium%22">Intracellular calcium</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+diseases%22">Muscle diseases</searchLink>
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  Label: Abstract
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  Data: Ryanodine receptor 1-related myopathies (RYR1-RM) are caused by RYR1 gene variants and comprise a wide spectrum of histopathological manifestations. Here, we focus on patients carrying RYR1 variants and muscle histopathology consistent with central core disease (CCD) or multi-minicore disease (MmD). RNA-sequencing analyses of skeletal muscle biopsies obtained from both CCD and MmD patients and from healthy controls were performed to better understand the molecular pathways activated by RYR1 variants. Our analyses revealed that, beyond the well-established role of RYR1 in calcium homeostasis, broader cellular pathways are implicated. In CCD, differentially expressed genes were enriched for pathways related to oxidative stress response, SMAD signalling, and apoptosis, consistent with the role of intracellular calcium dysregulation in promoting mitochondrial dysfunction and cell death. In contrast, MmD patients exhibited enrichment of pathways related to immune activation. This was corroborated by the upregulation of GTPase-regulating genes and the down-regulation of transcriptional repressors such as ZFP36 and ATN1. When considering all RYR1-RM patients collectively, Wnt signalling, immune-related pathways, and oxidative phosphorylation emerged as shared enriched pathways, indicating possible convergent mechanisms across histopathological phenotypes. Our study suggests that complex gene regulation driven by RYR1 variants may be a unifying feature in CCD and MmD, offering new insight into potential therapeutic targets. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label:
  Group: Ab
  Data: <i>Copyright of Biomolecules (2218-273X) is the property of MDPI and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.3390/biom15111599
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        Text: English
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