The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease

Metallomics. 2013 May;5(5):532-40. doi: 10.1039/c3mt20243g. Epub 2013 Mar 21.

Abstract

The Long-Evans Cinnamon (LEC) rat shows age-dependent hepatic manifestations that are similar to those of Wilson's disease (WD). The pathogenic process in the brain has, however, not been evaluated in detail due to the rarity of the neurological symptoms. However, copper accumulation is noted in LEC rat brain tissue from 24 weeks of age, which results in oxidative injuries. The current study investigated the gene expression profiles of LEC rat brains at 24 weeks of age in order to identify the important early molecular changes that underlie the development of neurological symptoms in WD. Biological ontology-based analysis revealed diverse altered expressions of the genes related to copper accumulation. Of particular interest, we found altered expression of genes connected to mitochondrial respiration (Sdhaf2 and Ndufb7), calcineurin-mediated cellular processes (Ppp3ca, Ppp3cb, and Camk2a), amyloid precursor protein (Anks1b and A2m) and alpha-synuclein (Snca). In addition to copper-related changes, compensatory upregulations of Cp and Hamp reflect iron-mediated neurotoxicity. Of note, reciprocal expression of Asmt and Bhmt is an important clue that altered S-adenosylhomocysteine metabolism underlies brain injury in WD, which is directly correlated to the decreased expression of S-adenosylhomocysteine hydrolase in hepatic tissue in LEC rats. In conclusion, our study indicates that diverse molecular changes, both variable and complex, underlie the development of neurological manifestations in WD. Copper-related injuries were found to be the principal pathogenic process, but Fe- or adenosylhomocysteine-related injuries were also implicated. Investigations using other animal models or accessible human samples will be required to confirm our observations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antimicrobial Cationic Peptides / blood
  • Brain / enzymology
  • Brain / metabolism*
  • Brain / pathology*
  • Cell Transformation, Neoplastic / genetics
  • Cell Transformation, Neoplastic / pathology
  • Cluster Analysis
  • Copper / metabolism
  • Disease Models, Animal
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Hepatolenticular Degeneration / blood
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology*
  • Hepcidins
  • Humans
  • Iron / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Mitochondria / metabolism
  • Neurons / metabolism
  • Neurons / pathology
  • Oligonucleotide Array Sequence Analysis
  • Rats
  • Rats, Inbred LEC
  • Real-Time Polymerase Chain Reaction
  • Reproducibility of Results
  • S-Adenosylhomocysteine / metabolism
  • Time Factors
  • Visual Pathways / metabolism
  • alpha-Synuclein / metabolism

Substances

  • Antimicrobial Cationic Peptides
  • HAMP protein, human
  • Hamp protein, rat
  • Hepcidins
  • alpha-Synuclein
  • Copper
  • S-Adenosylhomocysteine
  • Iron