TREX1 mutations are not associated with sporadic inclusion body myositis.
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.
Cox
F M
FM
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. f.cox@lumc.nl
Boon
E M J
EM
van der Lans
C A C
CA
Bakker
E
E
Verschuuren
J J G M
JJ
Badrising
U A
UA
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*
D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1