Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.

ABSTRACT: Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options. In this study, we delve into the investigations of five distinct LMNA mutations, including three novel variants and two pathogenic variants identified in patients with muscular laminopathy. Our approach employs zebrafish models to comprehensively study these variants. Transgenic zebrafish expressing wild-type LMNA and each mutation undergo extensive morphological profiling, swimming behavior assessments, muscle endurance evaluations, heartbeat measurement, and histopathological analysis of skeletal muscles. Additionally, these models serve as platform for focused drug screening. We explore the transcriptomic landscape through qPCR and R

SUBMITTER: Pan SW 

PROVIDER: S-EPMC11150447 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature