Zebrafish and cellular models of <i>SELENON</i>-Related Myopathy exhibit novel embryonic and metabolic phenotypes.

ABSTRACT: SELENON-Related Myopathy (SELENON-RM) is a rare congenital myopathy caused by mutations of the SELENON gene characterized by axial muscle weakness and progressive respiratory insufficiency. Muscle histopathology commonly includes multiminicores or a dystrophic pattern but is often non-specific. The SELENON gene encodes selenoprotein N (SelN), a selenocysteine-containing redox enzyme located in the endo/sarcoplasmic reticulum membrane where it colocalizes with mitochondria-associated membranes. However, the molecular mechanism(s) by which SelN deficiency causes SELENON-RM are undetermined. A hurdle is the lack of cellular and animal models that show assayable phenotypes. Here we report deep-phenotyping of SelN-deficient zebrafish and muscle cells. SelN-def

SUBMITTER: Barraza-Flores P 

PROVIDER: S-EPMC10925121 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature