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Central core disease (CCD) is a congenital myopathy linked to mutations in the ryanodine receptor type 1 (RYR1), the sarcoplasmic reticulum Ca 2+  release channel of skeletal muscle. CCD is characterized by formation of amorphous  cores  within muscle fibers, lacking mitochondrial activity. In skeletal muscle of RYR1 Y522S/WT  knock-in mice, carrying a human mutation in RYR1 linked to malignant hyperthermia (MH) with  cores , oxidative stress is elevated and fibers present severe mitochondrial damage and  cores . We treated RYR1 Y522S/WT  mice with N-acetylcysteine (NAC), an antioxidant provided  ad libitum  in drinking water for either 2 or 6 months. Our results show that 2 months of NAC treatment starting at 2 months of age, when mitochondrial and fiber damage was still minimal, (i) reduce formation of  unstructured  and  contracture cores , (ii) improve muscle function, and (iii) decrease mitochondrial damage. The beneficial effect of NAC treatment is also evident following 6 months of treatment starting at 4 months of age, when structural damage was at an advanced stage. NAC exerts its protective effect likely by lowering oxidative stress, as supported by the reduction of 3-NT and SOD2 levels. This work suggests that NAC administration is beneficial to prevent mitochondrial damage and formation of  cores  and improve muscle function in RYR1 Y522S/WT  mice.

Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1Y522S/WTMice

Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1^Y522S/WTMice