PUBLICATION

Behavioral and Sensory Deficits Associated with Dysfunction of GABAergic System in a Novel shank2-Deficient Zebrafish Model

Authors
Wang, Y., Liu, C., Deng, J., Xu, Q., Lin, J., Li, H., Hu, M., Hu, C., Li, Q., Xu, X.
ID
ZDB-PUB-230212-31
Date
2023
Source
International Journal of Molecular Sciences   24(3): (Journal)
Registered Authors
Li, Qiang, Liu, Chunxue, Xu, Xiu
Keywords
ASD, GABAR, behavior, shank2, zebrafish
MeSH Terms
  • Animals
  • Autism Spectrum Disorder*
  • Behavior, Animal/physiology
  • Disease Models, Animal
  • Nerve Tissue Proteins/metabolism
  • Phenotype
  • Touch
  • Zebrafish/genetics
PubMed
36768529 Full text @ Int. J. Mol. Sci.
Abstract
Hyper-reactivity to sensory inputs is a common and debilitating symptom of autism spectrum disorder (ASD), but the underlying neural abnormalities remain unclear. Two of three patients in our clinical cohort screen harboring de novo SHANK2 mutations also exhibited high sensitivity to visual, auditory, and tactile stimuli, so we examined whether shank2 deficiencies contribute to sensory abnormalities and other ASD-like phenotypes by generating a stable shank2b-deficient zebrafish model (shank2b-/-). The adult shank2b-/- zebrafish demonstrated reduced social preference and kin preference as well as enhanced behavioral stereotypy, while larvae exhibited hyper-sensitivity to auditory noise and abnormal hyperactivity during dark-to-light transitions. This model thus recapitulated the core developmental and behavioral phenotypes of many previous genetic ASD models. Expression levels of γ-aminobutyric acid (GABA) receptor subunit mRNAs and proteins were also reduced in shank2b-/- zebrafish, and these animals exhibited greater sensitivity to drug-induced seizures. Our results suggest that GABAergic dysfunction is a major contributor to the sensory hyper-reactivity in ASD, and they underscore the need for interventions that target sensory-processing disruptions during early neural development to prevent disease progression.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping