PUBLICATION

Animal models of Wilson disease

Authors
Reed, E., Lutsenko, S., Bandmann, O.
ID
ZDB-PUB-180224-4
Date
2018
Source
Journal of neurochemistry   146(4): 356-373 (Journal)
Registered Authors
Bandmann, Oliver, Reed, Emily
Keywords
none
MeSH Terms
  • Animals
  • Animals, Genetically Modified
  • Copper-Transporting ATPases/deficiency
  • Copper-Transporting ATPases/genetics*
  • Copper-Transporting ATPases/metabolism
  • Disease Models, Animal*
  • Hepatolenticular Degeneration*/genetics
  • Hepatolenticular Degeneration*/therapy
  • Humans
  • Mutation/genetics*
PubMed
29473169 Full text @ J. Neurochem.
Abstract
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism manifesting with hepatic, neurological and psychiatric symptoms. The limitations of the currently available therapy for WD (particularly in the management of neuropsychiatric disease), together with our limited understanding of key aspects of this illness (e.g. neurological vs hepatic presentation) justify the ongoing need to study WD in suitable animal models. Four animal models of WD have been established: the Long-Evans Cinnamon rat, the toxic-milk mouse, the Atp7b knockout mouse and the Labrador retriever. The existing models of WD all show good similarity to human hepatic WD and have been helpful in developing an improved understanding of the human disease. As mammals, the mouse, rat and canine models also benefit from high homology to the human genome. However, important differences exist between these mammalian models and human disease, particularly the absence of a convincing neurological phenotype. This review will first provide an overview of our current knowledge of the orthologous genes encoding ATP7B and the closely related ATP7A protein in C. elegans, Drosophila and zebrafish (Danio rerio) and then summarise key characteristics of rodent and larger mammalian models of ATP7B-deficiency. This article is protected by copyright. All rights reserved.
Genes / Markers
Figures
Expression
Phenotype
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Errata and Notes