Translational Medicine: Towards Gene Therapy of Marfan Syndrome
Marfan syndrome (MFS) is one of the most common inherited disorders of connective tissue caused by mutations of the fibrillin-1 gene (FBN1). Vascular abnormalities, such as the enlargement of the aorta with the risk of life-threatening rupture are frequently observed. However, current treatment is l...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/14/3934 |
| _version_ | 1797406010791428096 |
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| author | Klaus Kallenbach Anca Remes Oliver J. Müller Rawa Arif Marcin Zaradzki Andreas H. Wagner |
| author_facet | Klaus Kallenbach Anca Remes Oliver J. Müller Rawa Arif Marcin Zaradzki Andreas H. Wagner |
| author_sort | Klaus Kallenbach |
| collection | DOAJ |
| description | Marfan syndrome (MFS) is one of the most common inherited disorders of connective tissue caused by mutations of the fibrillin-1 gene (FBN1). Vascular abnormalities, such as the enlargement of the aorta with the risk of life-threatening rupture are frequently observed. However, current treatment is limited and therapeutic options focus solely on symptomatic therapy. Gene therapy focuses on genetically modifying cells to produce a therapeutic effect and may be a promising treatment option for MFS. Here, we first provide an overview of the historical background and characterization of MFS. Subsequently, we summarise current gene therapy options and possible translational concepts for this inherited disorder that affects connective tissue. |
| first_indexed | 2024-03-09T03:20:00Z |
| format | Article |
| id | doaj.art-06be19bae763438ba186ba24012413e1 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T03:20:00Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-06be19bae763438ba186ba24012413e12023-12-03T15:12:21ZengMDPI AGJournal of Clinical Medicine2077-03832022-07-011114393410.3390/jcm11143934Translational Medicine: Towards Gene Therapy of Marfan SyndromeKlaus Kallenbach0Anca Remes1Oliver J. Müller2Rawa Arif3Marcin Zaradzki4Andreas H. Wagner5Institute for Cardiac Surgery and Interventional Cardiology (INCCI), Department of Cardiac Surgery, 1210 Luxembourg, LuxembourgDepartment of Internal Medicine III, University of Kiel and University Hospital Schleswig-Holstein, 24105 Kiel, GermanyDepartment of Internal Medicine III, University of Kiel and University Hospital Schleswig-Holstein, 24105 Kiel, GermanyDepartment of Cardiac Surgery, University Hospital Heidelberg, 69120 Heidelberg, GermanyDepartment of Cardiac Surgery, University Hospital Heidelberg, 69120 Heidelberg, GermanyDepartment of Cardiovascular Physiology, Heidelberg University, Im Neuenheimer Feld 326, 69120 Heidelberg, GermanyMarfan syndrome (MFS) is one of the most common inherited disorders of connective tissue caused by mutations of the fibrillin-1 gene (FBN1). Vascular abnormalities, such as the enlargement of the aorta with the risk of life-threatening rupture are frequently observed. However, current treatment is limited and therapeutic options focus solely on symptomatic therapy. Gene therapy focuses on genetically modifying cells to produce a therapeutic effect and may be a promising treatment option for MFS. Here, we first provide an overview of the historical background and characterization of MFS. Subsequently, we summarise current gene therapy options and possible translational concepts for this inherited disorder that affects connective tissue.https://www.mdpi.com/2077-0383/11/14/3934marfan syndromeaortagene therapytranslational therapyaortic surgeryTGF-β |
| spellingShingle | Klaus Kallenbach Anca Remes Oliver J. Müller Rawa Arif Marcin Zaradzki Andreas H. Wagner Translational Medicine: Towards Gene Therapy of Marfan Syndrome Journal of Clinical Medicine marfan syndrome aorta gene therapy translational therapy aortic surgery TGF-β |
| title | Translational Medicine: Towards Gene Therapy of Marfan Syndrome |
| title_full | Translational Medicine: Towards Gene Therapy of Marfan Syndrome |
| title_fullStr | Translational Medicine: Towards Gene Therapy of Marfan Syndrome |
| title_full_unstemmed | Translational Medicine: Towards Gene Therapy of Marfan Syndrome |
| title_short | Translational Medicine: Towards Gene Therapy of Marfan Syndrome |
| title_sort | translational medicine towards gene therapy of marfan syndrome |
| topic | marfan syndrome aorta gene therapy translational therapy aortic surgery TGF-β |
| url | https://www.mdpi.com/2077-0383/11/14/3934 |
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