X-linked myopathy with excessive autophagy: characterization and therapy testing in zebrafish model

ABSTRACT: X-linked myopathy with excessive autophagy (XMEA), a rare childhood-onset autophagic vacuolar myopathy caused by mutations in VMA21, is characterized by proximal muscle weakness and progressive vacuolation. VMA21 encodes a protein chaperone of the vacuolar hydrogen ion ATPase, loss of which leads to lysosomal neutralization and impaired function. At present, there is incomplete understanding of XMEA, its mechanisms, consequences on other systems, and therapeutic strategies. A significant barrier to advancing knowledge and treatments is the lack of XMEA animal models. Therefore, we used CRISPR-Cas9 editing to engineer a loss-of-function mutation in zebrafish vma21. The vma21 mutant zebrafish phenocopy the human disease with impaired motor function and survival, liver dysfunction, and dysreg

SUBMITTER: Lily Huang 

PROVIDER: S-SCDT-10_1038-S44321-025-00204-8 | biostudies-other |

REPOSITORIES: biostudies-other