PUBLICATION

A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN

Authors
Lescouzères, L., Hassen-Khodja, C., Baudot, A., Bordignon, B., Bomont, P.
ID
ZDB-PUB-230506-41
Date
2023
Source
EMBO Molecular Medicine   15(7): e16267 (Journal)
Registered Authors
Bomont, Pascale
Keywords
giant axonal neuropathy, neuromuscular junction, pharmacological screening, therapy, zebrafish model
MeSH Terms
  • Animals
  • Cytoskeletal Proteins
  • Giant Axonal Neuropathy*/diagnosis
  • Giant Axonal Neuropathy*/pathology
  • Giant Axonal Neuropathy*/therapy
  • Neuromuscular Junction
  • Zebrafish
PubMed
37144692 Full text @ EMBO Mol. Med.
Abstract
Giant axonal neuropathy (GAN) is a fatal neurodegenerative disorder for which there is currently no treatment. Affecting the nervous system, GAN starts in infancy with motor deficits that rapidly evolve toward total loss of ambulation. Using the gan zebrafish model that reproduces the loss of motility as seen in patients, we conducted the first pharmacological screening for the GAN pathology. Here, we established a multilevel pipeline to identify small molecules restoring both the physiological and the cellular deficits in GAN. We combined behavioral, in silico, and high-content imaging analyses to refine our Hits to five drugs restoring locomotion, axonal outgrowth, and stabilizing neuromuscular junctions in the gan zebrafish. The postsynaptic nature of the drug's cellular targets provides direct evidence for the pivotal role the neuromuscular junction holds in the restoration of motility. Our results identify the first drug candidates that can now be integrated in a repositioning approach to fasten therapy for the GAN disease. Moreover, we anticipate both our methodological development and the identified hits to be of benefit to other neuromuscular diseases.
Genes / Markers
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Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping