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Published on: August 24, 2013
TREX1 mutations are not associated with sporadic inclusion body myositis
F M Cox1, E M J Boon, C A C van der Lans
1Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. f.cox@lumc.nl
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.
Conclusion:
TREX1 mutations do not play a role in the pathogenesis of sIBM.
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