Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells

Neurosci Lett. 2002 Jul 19;327(2):75-8. doi: 10.1016/s0304-3940(02)00400-7.

Abstract

Two mutations in torsinA have been identified to date, both of which are associated with an autosomal dominant form of early onset-dystonia. It has been reported previously that expression of the more common mutation, a deletion of one of a pair of glutamates (deltaE302/303) produces intracellular, endoplasmic reticulum-derived inclusions in cultured cells. In this study we have replicated these previous results and have additionally looked at the localization of the more recently described deltaF323-Y328 mutation. We show that the localization of this latter mutation is similar to wild type torsinA and unlike the deltaE302/303 mutation. This data suggests that the formation of intracellular inclusions is specific to deltaE302/303 and not a property shared by deltaF323-Y328.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Carrier Proteins / analysis
  • Carrier Proteins / genetics*
  • Cells, Cultured
  • Cytoplasm / chemistry
  • DNA, Complementary / genetics
  • Dystonia Musculorum Deformans / genetics*
  • Gene Expression
  • Humans
  • Inclusion Bodies / chemistry
  • Kidney / cytology
  • Molecular Chaperones*
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Transfection

Substances

  • Carrier Proteins
  • DNA, Complementary
  • Molecular Chaperones
  • TOR1A protein, human