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REVIEW article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1463318

Marfan Syndrome: Insights from Animal Models

Provisionally accepted
Yuanyuan Jiang Yuanyuan Jiang 1Ping Jia Ping Jia 1Xiaoying Feng Xiaoying Feng 2Dingding Zhang Dingding Zhang 1*
  • 1 Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, chengdu, China
  • 2 College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, China

The final, formatted version of the article will be published soon.

    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.

    Keywords: Marfan Syndrome, Fibrillin-1, transforming growth factor-beta signaling pathways, Animal Models, gene

    Received: 31 Oct 2024; Accepted: 13 Dec 2024.

    Copyright: © 2024 Jiang, Jia, Feng and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Dingding Zhang, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, chengdu, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.