| Autor: |
Robert Gniadecki, Aishwarya Iyer, Dylan Hennessey, Lamia Khan, Sandra O'Keefe, Desiree Redmond, Jan Storek, Caylib Durand, Jan Willem Cohen-Tervaert, Mohammed Osman |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of Autoimmunity. 131:102847 |
| ISSN: |
0896-8411 |
| Popis: |
Systemic sclerosis (SSc) is associated with secondary malignancies. Previous studies have suggested that mutated cancer proteins, such as RNA polymerase III, are autoantigens promoting an inflammatory response in SSc. However, it has never been previously investigated whether non-neoplastic tissue in SSc harbors mutations which may play a role in SSc pathogenesis.Skin biopsies were obtained from 8 sequential patients with a progressive form of early stage SSc (with severe skin and/or lung involvement). Areas of dermal fibrosis were microdissected and analyzed with deep, whole exome sequencing. Gene mutation patterns were compared to autologous buccal mucosal cells as a control.SSc skin biopsies were hypermutated with an average of 58 mutations/10Somatic hypermutation occurs in fibrotic skin in patients with early progressive SSc. Cancer driver gene mutations may potentially play a fundamental role in the pathogenesis of SSc. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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Full Text from ScienceDirect