Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita.

ABSTRACT: Myotonia congenita (MC) is an inherited rare disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. It is caused by loss-of-function mutations in the skeletal muscle chloride channel ClC-1, important for the stabilization of resting membrane potential and for the repolarization phase of action potentials. Thanks to in vitro functional studies, the molecular mechanisms by which ClC-1 mutations alter chloride ion influx into the cell have been in part clarified, classifying them in "gating-defective" or "expression-defective" mutations. To date, the treatment of MC is only palliative because no direct ClC-1 activator is available. An ideal drug should be one which is able to correct biophysical defects of ClC-1 in the case of gating-defec

SUBMITTER: Altamura C 

PROVIDER: S-EPMC9403836 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature