Oral N-acetylcysteine Trial for RYR1-related Myopathies
نویسندگان
چکیده
Investigators from NIH, Hyperion Biotechnology Inc., and Hospital for Sick Children studied the effect of oral N-acetylcysteine (NAC) on decreasing oxidative stress increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM).
منابع مشابه
RYR1-Related Myopathies and Anesthesiological Implications
The skeletal muscle sarcoplasmic reticulum calcium release channel, commonly known as ryanodine receptor type 1 (RyR1), is encoded by the RYR1 gene and specifically interacts with the voltage-dependent Ca2+-channel Cav1.1, localized at T-tubular membrane. The depolarization of the plasma membrane results in conformational changes in Cav1.1, which are transmitted directly to the RyR1 channel, ca...
متن کاملGenotype-phenotype correlations in recessive RYR1-related myopathies
BACKGROUND RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia, and genotype-phenotype patterns have emerged from the study of these mutations that have contributed to the understanding of disease pathogenesis. The recent availa...
متن کاملMolecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and re...
متن کاملOxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
The skeletal muscle ryanodine receptor is an essential component of the excitation-contraction coupling apparatus. Mutations in RYR1 are associated with several congenital myopathies (termed RYR1-related myopathies) that are the most common non-dystrophic muscle diseases of childhood. Currently, no treatments exist for these disorders. Although the primary pathogenic abnormality involves defect...
متن کاملCharacterization of recessive RYR1 mutations in core myopathies.
We have characterized at the molecular level, three families with core myopathies carrying apparent recessive mutations in their RYR1 gene and studied the pharmacological properties of myotubes carrying endogenous mutations as well as the properties of mutant channels expressed in HEK293 cells. The proband of family 1 carried p.Ala1577Thr+p.Gly2060Cys in trans, having inherited a mutation from ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2022
ISSN: ['2166-6482', '1043-3155']
DOI: https://doi.org/10.15844/pedneurbriefs-36-4