Mutant torsinA interacts with tyrosine hydroxylase in cultured cells

Neuroscience. 2009 Dec 15;164(3):1127-37. doi: 10.1016/j.neuroscience.2009.09.017. Epub 2009 Sep 15.

Abstract

A specific mutation (DeltaE302/303) in the torsinA gene underlies most cases of dominantly inherited early-onset torsion dystonia. This mutation causes the protein to aggregate and form intracellular inclusion bodies in cultured cells and animal models. Co-expression of the wildtype and mutant proteins resulted in the redistribution of the wildtype protein from the endoplasmic reticulum to inclusion bodies in cultured HEK293 cells, and this was associated with increased interaction between the two proteins. Expression of DeltaE302/303 but not wildtype torsinA in primary postnatal midbrain neurons resulted in the formation of intracellular inclusion bodies, predominantly in dopaminergic neurons. Tyrosine hydroxylase was sequestered in these inclusions and this process was mediated by increased protein-protein interaction between mutant torsinA and tyrosine hydroxylase. Analysis in an inducible neuroblastoma cell culture model demonstrated altered tyrosine hydroxylase activity in the presence of the mutant but not wildtype torsinA protein. Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line
  • Cell Line, Tumor
  • Cells, Cultured
  • Dopamine / biosynthesis*
  • Dystonia Musculorum Deformans / genetics
  • Dystonia Musculorum Deformans / metabolism
  • Dystonia Musculorum Deformans / physiopathology
  • Endoplasmic Reticulum / metabolism
  • Humans
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology
  • Mice
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism*
  • Mutation / genetics*
  • Neurons / metabolism*
  • Neurons / pathology
  • Phenotype
  • Protein Transport / physiology
  • Substantia Nigra / metabolism*
  • Substantia Nigra / pathology
  • Substantia Nigra / physiopathology
  • Tyrosine 3-Monooxygenase / metabolism*

Substances

  • Dyt1 protein, mouse
  • Molecular Chaperones
  • Tyrosine 3-Monooxygenase
  • Dopamine