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TREX1 mutations are not associated with sporadic inclusion body myositis
Author(s) -
Cox F. M.,
Boon E. M. J.,
Van Der Lans C. A. C.,
Bakker E.,
Verschuuren J. J. G. M.,
Badrising U. A.
Publication year - 2010
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2010.02964.x
Subject(s) - pathogenesis , medicine , inclusion body myositis , gene , myositis , polymorphism (computer science) , myopathy , mutation , genetics , immunology , pathology , biology , allele
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.