title: Genetics of hereditary large vessel diseases.
abstract: Recent progress in the study of hereditary large vessel diseases such as Marfan syndrome (MFS) have not only identified responsible genes but also provided better understanding of the pathophysiology and revealed possible new therapeutic targets. Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others. Their dysfunction disrupts the function of transforming growth factor-β (TGF-β) signaling pathways, as well as that of the extracellular matrix and smooth muscle contractile apparatus, resulting in progression of structural damage to large vessels, including aortic aneurysms and dissections. Notably, it has been shown that the TGF-β signaling pathway has a key role in the pathogenesis of MFS and related disorders, which may be important for development of strategies for medical and surgical treatment of thoracic aortic aneurysms and dissections.
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.|Department of Medical Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.|Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Osaka, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.|Department of Medical Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.|Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Osaka, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
mesh_terms: D000784:Aortic Dissection / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D017545:Aortic Aneurysm, Thoracic / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D000071838:Fibrillin-1 / Q000235:genetics; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000235:genetics; D008382:Marfan Syndrome / Q000235:genetics*; D009154:Mutation; D015398:Signal Transduction / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000502:physiology; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D016212:Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines