| Autor: |
Tamer A. Addissouky, Ibrahim El Tantawy El Sayed, Majeed M. A. Ali, Yuliang Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-12 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2731-085X |
| DOI: |
10.1007/s44162-024-00052-z |
| Popis: |
Abstract Background Cystic fibrosis (CF) is a fatal genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, disrupting ion transport. This results in organ damage and reduced life expectancy. Main body of the abstract Recent therapeutic advances targeting CFTR dysfunction have transformed treatment. CFTR modulator drugs directly target molecular defects underlying CF. Ivacaftor was the first approved potentiator benefiting gating mutations. Correctors like lumacaftor/ivacaftor and newer triple therapy combinations more effectively address the prevalent F508del mutation by improving CFTR processing. Gene and mRNA therapies also show promise, with preclinical studies editing CFTR in stem cell-derived epithelia and mRNA supplementation stabilizing acute exacerbations. Short conclusion Targeting CFTR dysfunction through small molecules, gene editing, and cell-based therapies represents a paradigm shift from symptom management to addressing genetic causes. Expanding access to innovative treatments across all patient subgroups may modify disease progression. While awaiting genetic cures, emerging strategies provide hope that CF outcomes can transition from early lethality to a chronic condition with an improved life expectancy and quality of life. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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