Marfan syndrome: insights from animal models
Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome. The fibrillin-1 gene (FBN1) is a major gene involved in the path...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1463318/full |
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| author | Yuanyuan Jiang Ping Jia Xiaoying Feng Dingding Zhang |
| author_facet | Yuanyuan Jiang Ping Jia Xiaoying Feng Dingding Zhang |
| author_sort | Yuanyuan Jiang |
| collection | DOAJ |
| description | Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome. The fibrillin-1 gene (FBN1) is a major gene involved in the pathogenesis of MFS. It has been shown that the aortic pathogenesis of MFS is associated with the imbalances of the transforming growth factor-beta (TGF-β) signaling pathway. However, the exact molecular mechanism of MFS is unclear. Animal models may partially mimic MFS and are vital to the study of MFS. Several species of animals have been used for MFS studies, including chicks, cattle, mice, pigs, zebrafishes, Caenorhabditis elegans, and rabbits. These models were developed spontaneously or in combination with genetic engineering techniques. This review is to describe the TGF-β signaling pathway in MFS and the potential application of animal models to provide new therapeutic strategies for patients with MFS. |
| format | Article |
| id | doaj-art-dfed0204eba3422d988b2bec385fdea9 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-dfed0204eba3422d988b2bec385fdea92025-01-06T06:58:49ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.14633181463318Marfan syndrome: insights from animal modelsYuanyuan Jiang0Ping Jia1Xiaoying Feng2Dingding Zhang3Marfan Research Group, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, ChinaDepartment of Neurosurgery Nursing, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, ChinaCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaSichuan Provincial Key Laboratory for Genetic Disease, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, ChinaMarfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome. The fibrillin-1 gene (FBN1) is a major gene involved in the pathogenesis of MFS. It has been shown that the aortic pathogenesis of MFS is associated with the imbalances of the transforming growth factor-beta (TGF-β) signaling pathway. However, the exact molecular mechanism of MFS is unclear. Animal models may partially mimic MFS and are vital to the study of MFS. Several species of animals have been used for MFS studies, including chicks, cattle, mice, pigs, zebrafishes, Caenorhabditis elegans, and rabbits. These models were developed spontaneously or in combination with genetic engineering techniques. This review is to describe the TGF-β signaling pathway in MFS and the potential application of animal models to provide new therapeutic strategies for patients with MFS.https://www.frontiersin.org/articles/10.3389/fgene.2024.1463318/fullmarfan syndromefibrillin-1transforming growth factor-beta signaling pathwaysanimal modelsgene |
| spellingShingle | Yuanyuan Jiang Ping Jia Xiaoying Feng Dingding Zhang Marfan syndrome: insights from animal models Frontiers in Genetics marfan syndrome fibrillin-1 transforming growth factor-beta signaling pathways animal models gene |
| title | Marfan syndrome: insights from animal models |
| title_full | Marfan syndrome: insights from animal models |
| title_fullStr | Marfan syndrome: insights from animal models |
| title_full_unstemmed | Marfan syndrome: insights from animal models |
| title_short | Marfan syndrome: insights from animal models |
| title_sort | marfan syndrome insights from animal models |
| topic | marfan syndrome fibrillin-1 transforming growth factor-beta signaling pathways animal models gene |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1463318/full |
| work_keys_str_mv | AT yuanyuanjiang marfansyndromeinsightsfromanimalmodels AT pingjia marfansyndromeinsightsfromanimalmodels AT xiaoyingfeng marfansyndromeinsightsfromanimalmodels AT dingdingzhang marfansyndromeinsightsfromanimalmodels |