ZFIN ID: ZDB-PUB-101011-41
Zebrafish models for the functional genomics of neurogenetic disorders
Kabashi, E., Brustein, E., Champagne, N., and Drapeau, P.
Date: 2011
Source: Biochimica et biophysica acta. Molecular basis of disease   1812(3): 335-345 (Review)
Registered Authors: Brustein, Edna, Drapeau, Pierre
Keywords: Zebrafish, Human diseases, Neurogenetic diseases, Neurodegenerative disorders, Neurodevelopmental diseases, Animal models, Genomics, Human genetics, Trangenic animals
MeSH Terms:
  • Animals
  • Disease Models, Animal*
  • Genomics*
  • Humans
  • Neurodegenerative Diseases/genetics*
  • Neurodegenerative Diseases/pathology
  • Zebrafish/genetics*
PubMed: 20887784 Full text @ BBA Molecular Basis of Disease
In this review we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular neural degeneration can be characterized at genetic, cellular, functional and behavioral levels. Zebrafish have been used to knockdown or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia and Alzheimer's disease. More recently we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics.