Somatic Mutations and Autoimmunity
Autoimmune diseases are among the most common chronic illness caused by a dysregulated immune response against self-antigens. Close to 5% of the general population in Western countries develops some form of autoimmunity, yet its underlying causes, although intensively studied, are still not fully kn...
| 出版年: | Cells |
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| 主要な著者: | , |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
MDPI AG
2021-08-01
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| 主題: | |
| オンライン･アクセス: | https://www.mdpi.com/2073-4409/10/8/2056 |
| _version_ | 1851838627377577984 |
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| author | Maha Alriyami Constantin Polychronakos |
| author_facet | Maha Alriyami Constantin Polychronakos |
| author_sort | Maha Alriyami |
| collection | DOAJ |
| container_title | Cells |
| description | Autoimmune diseases are among the most common chronic illness caused by a dysregulated immune response against self-antigens. Close to 5% of the general population in Western countries develops some form of autoimmunity, yet its underlying causes, although intensively studied, are still not fully known, and no curative therapies exist. It is well established that autoimmune diseases have common mechanisms and are caused by both genetic and non-genetic risk factors. One novel risk factor that can contribute to autoimmunity is somatic mutations, in a role parallel to their role in cancer. Somatic mutations are stochastic, <i>de novo</i>, non-inherited mutations. In this hypothesis, the persistent proliferation of self-reactive lymphocytes (that is usually hindered by a series of checkpoints) is permitted, due to somatic mutations in these expanding cells, allowing them to bypass multiple regulatory checkpoints, causing autoimmunity. This novel concept of the contribution of these mutations in non-malignant diseases has recently started to be explored. It proposes a novel paradigm for autoimmunity etiology and could be the missing piece of the autoimmunity puzzle. |
| format | Article |
| id | doaj-art-eec2f36bd06f423aba29846791eb4beb |
| institution | Directory of Open Access Journals |
| issn | 2073-4409 |
| language | English |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| spelling | doaj-art-eec2f36bd06f423aba29846791eb4beb2025-08-19T22:29:24ZengMDPI AGCells2073-44092021-08-01108205610.3390/cells10082056Somatic Mutations and AutoimmunityMaha Alriyami0Constantin Polychronakos1Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, OmanThe Endocrine Genetics Laboratory, Child Health and Human Development Program, Department of Pediatrics, McGill University Health Centre Research Institute, Montreal, QC H4A 3J1, CanadaAutoimmune diseases are among the most common chronic illness caused by a dysregulated immune response against self-antigens. Close to 5% of the general population in Western countries develops some form of autoimmunity, yet its underlying causes, although intensively studied, are still not fully known, and no curative therapies exist. It is well established that autoimmune diseases have common mechanisms and are caused by both genetic and non-genetic risk factors. One novel risk factor that can contribute to autoimmunity is somatic mutations, in a role parallel to their role in cancer. Somatic mutations are stochastic, <i>de novo</i>, non-inherited mutations. In this hypothesis, the persistent proliferation of self-reactive lymphocytes (that is usually hindered by a series of checkpoints) is permitted, due to somatic mutations in these expanding cells, allowing them to bypass multiple regulatory checkpoints, causing autoimmunity. This novel concept of the contribution of these mutations in non-malignant diseases has recently started to be explored. It proposes a novel paradigm for autoimmunity etiology and could be the missing piece of the autoimmunity puzzle.https://www.mdpi.com/2073-4409/10/8/2056somatic mutationsautoimmunitylymphocytes |
| spellingShingle | Maha Alriyami Constantin Polychronakos Somatic Mutations and Autoimmunity somatic mutations autoimmunity lymphocytes |
| title | Somatic Mutations and Autoimmunity |
| title_full | Somatic Mutations and Autoimmunity |
| title_fullStr | Somatic Mutations and Autoimmunity |
| title_full_unstemmed | Somatic Mutations and Autoimmunity |
| title_short | Somatic Mutations and Autoimmunity |
| title_sort | somatic mutations and autoimmunity |
| topic | somatic mutations autoimmunity lymphocytes |
| url | https://www.mdpi.com/2073-4409/10/8/2056 |
| work_keys_str_mv | AT mahaalriyami somaticmutationsandautoimmunity AT constantinpolychronakos somaticmutationsandautoimmunity |