PUBLICATION

fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles

Authors
Dennhag, N., Kahsay, A., Nissen, I., Nord, H., Chermenina, M., Liu, J., Arner, A., Liu, J.X., Backman, L.J., Remeseiro, S., von Hofsten, J., Pedrosa Domellöf, F.
ID
ZDB-PUB-240304-9
Date
2024
Source
Nature communications   15: 19501950 (Journal)
Registered Authors
Nord, Hanna, von Hofsten, Jonas
Keywords
none
Datasets
GEO:GSE242134, GEO:GSE242137, GEO:GSE242136, GEO:GSE242135
MeSH Terms
  • Animals
  • Cytoskeletal Proteins/metabolism
  • Dystrophin/genetics
  • Ectopic Gene Expression
  • Muscular Dystrophy, Duchenne*/genetics
  • Muscular Dystrophy, Duchenne*/metabolism
  • Oculomotor Muscles*
  • Zebrafish/genetics
  • Zebrafish/metabolism
PubMed
38431640 Full text @ Nat. Commun.
Abstract
In muscular dystrophies, muscle fibers loose integrity and die, causing significant suffering and premature death. Strikingly, the extraocular muscles (EOMs) are spared, functioning well despite the disease progression. Although EOMs have been shown to differ from body musculature, the mechanisms underlying this inherent resistance to muscle dystrophies remain unknown. Here, we demonstrate important differences in gene expression as a response to muscle dystrophies between the EOMs and trunk muscles in zebrafish via transcriptomic profiling. We show that the LIM-protein Fhl2 is increased in response to the knockout of desmin, plectin and obscurin, cytoskeletal proteins whose knockout causes different muscle dystrophies, and contributes to disease protection of the EOMs. Moreover, we show that ectopic expression of fhl2b can partially rescue the muscle phenotype in the zebrafish Duchenne muscular dystrophy model sapje, significantly improving their survival. Therefore, Fhl2 is a protective agent and a candidate target gene for therapy of muscular dystrophies.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping