An update on the genetics and pathogenesis of hereditary angioedema
Hereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement, kinin and hemostatic pathway. Till date, mutations i...
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| Format: | Article |
| Language: | English |
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KeAi Communications Co., Ltd.
2020-03-01
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| Series: | Genes and Diseases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304219300455 |
| _version_ | 1797758802256199680 |
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| author | Aaqib Zaffar Banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh |
| author_facet | Aaqib Zaffar Banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh |
| author_sort | Aaqib Zaffar Banday |
| collection | DOAJ |
| description | Hereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement, kinin and hemostatic pathway. Till date, mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1 (SERPING1), factor XII (F12), plasminogen (PLG) and angiopoietin 1 (ANGPT 1). These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in ANGPT1 gene that disturbs the cytoskeletal assembly of vascular endothelial cells. In this review we aim to summarize the recent advances in the pathogenesis and genetics of HAE. We also provide an overview of possible future prospects in the identification of new genetic defects in HAE. Keywords: Angiopoietin 1, C1 inhibitor, Factor XII, Genetics, Hereditary angioedema, Plasminogen |
| first_indexed | 2024-03-12T18:35:23Z |
| format | Article |
| id | doaj.art-ddf936c26f194b328f1398c0a228105b |
| institution | Directory Open Access Journal |
| issn | 2352-3042 |
| language | English |
| last_indexed | 2024-03-12T18:35:23Z |
| publishDate | 2020-03-01 |
| publisher | KeAi Communications Co., Ltd. |
| record_format | Article |
| series | Genes and Diseases |
| spelling | doaj.art-ddf936c26f194b328f1398c0a228105b2023-08-02T08:07:21ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422020-03-01717583An update on the genetics and pathogenesis of hereditary angioedemaAaqib Zaffar Banday0Anit Kaur1Ankur Kumar Jindal2Amit Rawat3Surjit Singh4Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaAllergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaCorresponding author.; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaAllergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaAllergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaHereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement, kinin and hemostatic pathway. Till date, mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1 (SERPING1), factor XII (F12), plasminogen (PLG) and angiopoietin 1 (ANGPT 1). These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in ANGPT1 gene that disturbs the cytoskeletal assembly of vascular endothelial cells. In this review we aim to summarize the recent advances in the pathogenesis and genetics of HAE. We also provide an overview of possible future prospects in the identification of new genetic defects in HAE. Keywords: Angiopoietin 1, C1 inhibitor, Factor XII, Genetics, Hereditary angioedema, Plasminogenhttp://www.sciencedirect.com/science/article/pii/S2352304219300455 |
| spellingShingle | Aaqib Zaffar Banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh An update on the genetics and pathogenesis of hereditary angioedema Genes and Diseases |
| title | An update on the genetics and pathogenesis of hereditary angioedema |
| title_full | An update on the genetics and pathogenesis of hereditary angioedema |
| title_fullStr | An update on the genetics and pathogenesis of hereditary angioedema |
| title_full_unstemmed | An update on the genetics and pathogenesis of hereditary angioedema |
| title_short | An update on the genetics and pathogenesis of hereditary angioedema |
| title_sort | update on the genetics and pathogenesis of hereditary angioedema |
| url | http://www.sciencedirect.com/science/article/pii/S2352304219300455 |
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