Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?

ABSTRACT: Hypokalemic periodic paralysis is an autosomal dominant, rare disorder caused by variants in the genes for voltage-gated calcium channel Ca_V1.1 (CACNA1S) and Na_V1.4 (SCN4A). Patients with hypokalemic periodic paralysis may suffer from periodic paralysis alone, periodic paralysis co-existing with permanent weakness or permanent weakness alone. Hypokalemic periodic paralysis has been known to be associated with vacuolar myopathy for decades, and that vacuoles are a universal feature regardless of phenotype. Hence, we wanted to investigate the nature and cause of the vacuoles. Fourteen patients with the p.R528H variation in the CACNA1S gene was included in the study. Histology, immunohistochemistry and transmission electron microscopy was used to assess general histopath

SUBMITTER: Krag TO 

PROVIDER: S-EPMC8201813 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature