Abstract
Marfan syndrome (MFS, OMIM #154700) is an autosomal dominant connective tissue disorder, clinically presenting with cardinal features of skeletal, ocular, and cardiovascular systems. In a classical concept of MFS, changes in connective tissue integrity can be explained by defects in fibrillin-1, a major component of extracellular microfibrils. Recently TGFBR2 and TGFBR1 mutations were identified in a subset of patients with MFS (MFS2, OMIM #154705) and other MFS-related disorders including Loeys-Dietz syndrome (LDS, #OMIM 609192) and familial thoracic aortic aneurysms and dissections (TAAD2, #OMIM 608987) [1]. These data may indicate that genetic heterogeneity exists in MFS and its related conditions and regulation of TGF-β signaling plays a significant role in these disorders. It is noteworthy that losartan, an angiotensin II type 1 receptor (AT1) antagonist, has been highlighted as a potential drug for protection of aortic aneurysm in a mice MFS model through suppression of abnormal TGF-β upregula-tion. In this lecture, comprehensive genetic study of MFS and MFS-related disorder in Japan is presented. Furthermore future direction for genetic study of a more common disorder, aortic dissection will be discussed.
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Matsumoto, N. (2009). Gene Analysis of Marfan Syndrome. In: Kazui, T., Takamoto, S. (eds) Advances in Understanding Aortic Diseases. Springer, Tokyo. https://doi.org/10.1007/978-4-431-99237-0_5
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DOI: https://doi.org/10.1007/978-4-431-99237-0_5
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