Drug-based therapies for vascular disease in Marfan syndrome: from mouse models to human patients.
Marfan 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.
Cook
Jason R
JR
Mount Sinai School of Medicine, New York, NY, USA.
Nistala
Harikiran
H
Ramirez
Francesco
F
D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use; D000818:Animals; D000959:Antihypertensive Agents / Q000494:pharmacology / Q000627:therapeutic use; D001011:Aorta / Q000473:pathology*; D017545:Aortic Aneurysm, Thoracic / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D003238:Connective Tissue / Q000187:drug effects / Q000473:pathology*; D004195:Disease Models, Animal; D000071837:Fibrillins; D006801:Humans; D019808:Losartan / Q000494:pharmacology / Q000627:therapeutic use; D008382:Marfan Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D051379:Mice; D008840:Microfilament Proteins / Q000187:drug effects; D012084:Renin-Angiotensin System / Q000187:drug effects; D015398:Signal Transduction / Q000187:drug effects; D016212:Transforming Growth Factor beta / Q000187:drug effects
D047228:Angiotensin II Type 1 Receptor Blockers; D000959:Antihypertensive Agents; D000071837:Fibrillins; D008840:Microfilament Proteins; D016212:Transforming Growth Factor beta; D019808:Losartan