TREX1 mutations are not associated with sporadic inclusion body myositis
| Autor: | Fieke M.E. Cox, Jan J.G.M. Verschuuren, Umesh A. Badrising, Egbert Bakker, E. M. J. Boon, C. A. C. Van Der Lans |
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| Přispěvatelé: | Human genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Male
Pathology medicine.medical_specialty Sporadic Inclusion Body Myositis Disease Myositis Inclusion Body Pathogenesis Polymorphism (computer science) medicine Humans Genetic Predisposition to Disease Myopathy Aged Aged 80 and over Direct sequencing business.industry autoimmune diseases inclusion body myositis TREX1 TREX1 Gene Middle Aged Phosphoproteins medicine.disease Exodeoxyribonucleases Neurology Mutation Immunology Female Neurology (clinical) medicine.symptom Inclusion body myositis business |
| Zdroj: | European Journal of Neurology, 17(8), 1108-1109 European Journal of Neurology, 17(8), 1108-1109. Wiley-Blackwell Cox, F M, Boon, E M J, Van Der Lans, C A C, Bakker, E, Verschuuren, J J G M & Badrising, U A 2010, ' TREX1 mutations are not associated with sporadic inclusion body myositis ', European Journal of Neurology, vol. 17, no. 8, pp. 1108-1109 . https://doi.org/10.1111/j.1468-1331.2010.02964.x |
| ISSN: | 1351-5101 |
| DOI: | 10.1111/j.1468-1331.2010.02964.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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