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

ABSTRACT: Central core disease (CCD) is a congenital myopathy linked to mutations in the ryanodine receptor type 1 (RYR1), the sarcoplasmic reticulum Ca²⁺ 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 mitochondri

SUBMITTER: Michelucci A 

PROVIDER: S-EPMC5610828 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature