Towards an RNA-based therapy for Marfan syndrome |
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| Affiliation: | 1. Pontificia Universidad Católica Argentina, Facultad de Medicina, Instituto de Investigaciones Biomédicas UCA-CONICET, Laboratorio de Patología Cardiovascular Experimental e Hipertensión Arterial, Buenos Aires, Argentina;2. Servicio de Hemodinamia y Cardiología Intervencionista, Hospital Italiano de Buenos Aires, Argentina;3. Hospital General de Agudos Teodoro Álvarez, Laboratorio Central, Sección Bioquímica, Argentina;4. Instituto de Investigaciones Biomédicas en Retrovirus y SIDA, CONICET-Universidad de Buenos Aires, Buenos Aires, Argentina;5. Universidad de Buenos Aires, Facultad de Medicina, Departamento de Patología, Buenos Aires, Argentina |
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| 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. |
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