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Fibrosi cistica by Karima Gourari-Bouzouina

Fibrosi cistica

by Karima Gourari-Bouzouina , Zahia Boucherit-Otmani
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Book cover type: Paperback
  • ISBN13: 9786209316722
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Edizioni Sapienza
  • Publisher Imprint: Edizioni Sapienza
  • Publication Date:
  • Pages: 108
  • Original Price: GBP 52.98
  • Language: Italian
  • Edition: N/A
  • Item Weight: 155 grams
  • BISAC Subject(s): Life Sciences / Biology

La fibrosi cistica (FC) � una malattia genetica letale che colpisce principalmente la popolazione caucasica, causata da mutazioni nel gene CFTR, che codifica per un canale ionico del cloro. La mutazione pi� comune, ∆F508, altera il ripiegamento del CFTR e ne impedisce l'espressione sulla superficie delle cellule epiteliali, interrompendo il trasporto di ioni e acqua e causando la formazione di muco denso, un segno distintivo della malattia polmonare da FC. I trattamenti sono progrediti, con antibiotici che gestiscono le infezioni croniche e modulatori del CFTR (ivacaftor, tezacaftor, elexacaftor) che migliorano la funzione proteica. Tuttavia, molti pazienti con mutazioni rare o resistenza ai farmaci rimangono non trattati. Le terapie emergenti si concentrano ora sulla terapia genica per correggere o sostituire il gene CFTR difettoso e sulla terapia cellulare per rigenerare l'epitelio funzionale a partire da cellule staminali corrette. La combinazione di queste strategie offre un percorso promettente verso la correzione personalizzata e a lungo termine della causa molecolare della FC.

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