title: Towards an RNA-based therapy for Marfan syndrome.
abstract: Dominant genetic disorders, particularly those due to a mutant protein exerting a dominant-negative effect, present a unique challenge for gene therapy. Unlike recessive disorders, where expression of a wild-type gene is likely to be sufficient to ameliorate disease pathology, therapies for dominant disorders are likely to require suppression of the disease allele while maintaining expression of its wild-type counterpart. Marfan syndrome, the most common genetic disorder of the connective tissue, is caused by mutant fibrillin 1 protein exerting a dominant-negative effect. Antisense hammerhead ribozymes--small catalytic RNAs capable of targeting and cleaving specific RNA molecules--appear to offer promise in the development of a therapy for Marfan syndrome.
authors.affiliation: Dept of Pediatrics, University of Connecticut Health Center, Farmington 06030, USA. kilpatrick@sun.uchc.edu
authors.forename: M W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: L A
authors.initials: LA
authors.lastname: Phylactou
mesh_terms: D000071838:Fibrillin-1; D000071837:Fibrillins; D015316:Genetic Therapy; D006801:Humans; D008382:Marfan Syndrome / Q000628:therapy*; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism; D016337:RNA, Catalytic / Q000235:genetics*; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D016337:RNA, Catalytic; C000605722:FBN1 protein, human; D054392:Adipokines