Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

ABSTRACT: Central Core Disease (CCD) is a congenital myopathy predominantly caused by mutations in the gene encoding ryanodine receptor type-1 (RYR1), the intracellular Ca²⁺ release channel embedded in the skeletal muscle sarcoplasmic reticulum membrane. The I4898T mutation represents one of the most common RYR1 mutations associated with CCD. Unfortunately, there are no approved therapies for CCD or for other myopathies caused by mutations in this gene. This study aims to perform a top-down differential proteomic analysis on soleus muscle samples from wild-type mice (WT) and heterozygous knock-in mice carrying the I4895T (IT) mutation in RyR1, to investigate the pathogenic mechanisms and molecular pathways involved in this myopathy and to shed light on new potential biomarkers useful for

SUBMITTER: Vantaggiato L 

PROVIDER: S-EPMC12691891 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature