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Fibrose kystique by Karima Gourari-Bouzouina

Fibrose kystique

by Karima Gourari-Bouzouina , Zahia Boucherit-Otmani
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Book cover type: Paperback
  • ISBN13: 9786209309045
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Editions Notre Savoir
  • Publisher Imprint: Editions Notre Savoir
  • Publication Date:
  • Pages: 112
  • Original Price: GBP 52.98
  • Language: French
  • Edition: N/A
  • Item Weight: 159 grams
  • BISAC Subject(s): Life Sciences / Biology

La mucoviscidose est une maladie g�n�tique mortelle qui touche principalement les personnes d'origine caucasienne. Elle est caus�e par des mutations du g�ne CFTR, qui code pour un canal ionique chlorure. La mutation la plus fr�quente, ∆F508, modifie le repliement de la prot�ine CFTR et emp�che son expression � la surface des cellules �pith�liales, perturbant ainsi le transport des ions et de l'eau et entra�nant la production d'un mucus �pais, caract�ristique de l'atteinte pulmonaire li�e � la mucoviscidose. Les traitements ont progress� les antibiotiques permettent de g�rer les infections chroniques et les modulateurs du g�ne CFTR (ivacaftor, tezacaftor, elexacaftor) am�liorent la fonction de la prot�ine. Cependant, de nombreux patients porteurs de mutations rares ou pr�sentant une r�sistance aux m�dicaments restent sans traitement. Les th�rapies �mergentes se concentrent d�sormais sur la th�rapie g�nique, visant � corriger ou remplacer le g�ne CFTR d�fectueux, et sur la th�rapie cellulaire, pour r�g�n�rer un �pith�lium fonctionnel � partir de cellules souches corrig�es. L'association de ces strat�gies offre une voie prometteuse vers une correction personnalis�e et durable de la cause mol�culaire de la mucoviscidose.

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