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. Conclusion: TREX1 mutations do not play a role in the pathogenesis of sIBM.
Original language | English |
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Pages (from-to) | 1108-1109 |
Number of pages | 2 |
Journal | European journal of neurology |
Volume | 17 |
Issue number | 8 |
DOIs | |
Publication status | Published - Aug 2010 |
Keywords
- TREX1
- autoimmune diseases
- inclusion body myositis