Key result
Animal models of Marfan syndrome clarify TGF-beta signaling to guide new therapeutic strategies.
Why the study?
Aortic pathology is the leading cause of death in Marfan syndrome, but the exact molecular mechanism remains unclear.
Animal models of Marfan syndrome are essential tools for elucidating the molecular pathogenesis of aortic disease, particularly TGF-β signaling imbalances, and for developing novel therapeutic strategies.
Does not yet inform Marfan management; leaves open translation of TGF-β insights from animal models to human trials.
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.
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Jiang et al. (2025) conducted a review in Marfan syndrome. Animal models of Marfan syndrome, including mice, pigs, and zebrafish, provide critical insights into the role of the TGF-beta signaling pathway and help identify potential new therapeutic strategies.
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