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Drug-based therapies for vascular disease in Marfan syndrome: from mouse models to human patients Cook JR; Nistala H; Ramirez FMt Sinai J Med 2010[Jul]; 77 (4): 366-73Marfan syndrome is a congenital disorder of the connective tissue with a long history of clinical and basic science breakthroughs that have forged our understanding of vascular-disease pathogenesis. The biomedical importance of Marfan syndrome was recently underscored by the discovery that the underlying genetic lesion impairs both tissue integrity and transforming growth factor-beta regulation of cell behavior. This discovery has led to the successful implementation of the first pharmacological intervention in a connective-tissue disorder otherwise incurable by either gene-based or stem cell-based therapeutic strategies. More generally, information gathered from the study of Marfan syndrome pathogenesis has the potential to improve the clinical management of common acquired disorders of connective-tissue degeneration.|Angiotensin II Type 1 Receptor Blockers/therapeutic use[MESH]|Animals[MESH]|Antihypertensive Agents/pharmacology/therapeutic use[MESH]|Aorta/*pathology[MESH]|Aortic Aneurysm, Thoracic/*drug therapy/genetics/pathology[MESH]|Connective Tissue/drug effects/*pathology[MESH]|Disease Models, Animal[MESH]|Fibrillins[MESH]|Humans[MESH]|Losartan/pharmacology/therapeutic use[MESH]|Marfan Syndrome/*drug therapy/genetics/pathology[MESH]|Mice[MESH]|Microfilament Proteins/drug effects[MESH]|Renin-Angiotensin System/drug effects[MESH]|Signal Transduction/drug effects[MESH]|Transforming Growth Factor beta/drug effects[MESH] |
