title: TREX1 mutations are not associated with sporadic inclusion body myositis.
abstract: BACKGROUND
  Sporadic inclusion body myositis (sIBM) is the most frequent acquired myopathy above the age of fifty. The exact mechanism causing this disease is not known, but immune-mediated features are prominent and are probably to play a role in its pathogenesis. TREX1 gene mutations are associated with a large range of autoimmune diseases, such as systemic lupus erythematosus. We investigated whether mutations in the TREX1 gene were associated with sIBM.
  
  
  METHODS
  Fifty-four patients with sIBM were tested for TREX1 mutations by direct sequencing.
  
  
  RESULTS
  All 54 patients tested negative for pathogenic mutations in the TREX1 gene. One presumed non-pathogenic polymorphism was found in 42 out of 54 patients.
  
  
  CONCLUSIONS
  TREX1 mutations do not play a role in the pathogenesis of sIBM.
authors.affiliation: Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. f.cox@lumc.nl
authors.forename: F M
authors.initials: FM
authors.lastname: Cox
authors.forename: E M J
authors.initials: EM
authors.lastname: Boon
authors.forename: C A C
authors.initials: CA
authors.lastname: van der Lans
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: J J G M
authors.initials: JJ
authors.lastname: Verschuuren
authors.forename: U A
authors.initials: UA
authors.lastname: Badrising
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*
chemical_list: D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1