A therapeutic advance in myopathies related to the RYR1 gene

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Swiss researchers have undertaken preclinical work to pharmacologically treat one of the forms of myopathy linked to the ryanodine receptor type 1 (RYR1) :

  • the model used for this research was a composite heterozygous mouse for two pathogenic variants of the RYR1 gene (p.Q1970fsX16 and p.A4329D)
  • these mice were treated for 15 weeks with 0.05 mg/kg/d of 5-aza-2′ deoxycytidine, a nucleoside-derived compound already approved by the FDA for another indication,
  • the functional benefits observed were very encouraging, particularly in fast-twitch muscle fibres.

This work constitutes an initial proof of concept and a prelude to a possible therapeutic trial with this compound.

 

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy. Ruiz A, Noreen F, Meier H, et al. Hum Mol Genet. 2025 Feb 13:ddaf021. doi: 10.1093/hmg/ddaf021.

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