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Mukowiscydoza by Karima Gourari-Bouzouina

Mukowiscydoza

by Karima Gourari-Bouzouina , Zahia Boucherit-Otmani
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Book cover type: Paperback
  • ISBN13: 9786209321849
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Wydawnictwo Nasza Wiedza
  • Publisher Imprint: Wydawnictwo Nasza Wiedza
  • Publication Date:
  • Pages: 108
  • Original Price: GBP 52.98
  • Language: Polish
  • Edition: N/A
  • Item Weight: 155 grams
  • BISAC Subject(s): Life Sciences / Biology

Mukowiscydoza (CF) to śmiertelna choroba genetyczna, dotykająca gl�wnie rasy bialej, spowodowana mutacjami w genie CFTR kodującym kanal jonowy chlorkowy. Najczęstsza mutacja ∆F508 zmienia faldowanie genu CFTR i uniemożliwia jego ekspresję na powierzchni kom�rek nablonkowych, zakl�cając transport jon�w i wody oraz prowadząc do powstawania gęstego śluzu, charakterystycznego dla choroby pluc u chorych na mukowiscydozę. Leczenie poczynilo postępy, a antybiotyki stosowano w leczeniu przewleklych infekcji, a modulatory CFTR (iwakaftor, tezakaftor, eleksakaftor) poprawialy funkcję bialek. Jednak wielu pacjent�w z rzadkimi mutacjami lub lekoopornością pozostaje bez leczenia. Nowe terapie koncentrują się obecnie na terapii genowej, kt�ra koryguje lub zastępuje wadliwy gen CFTR, oraz na terapii kom�rkowej, kt�ra regeneruje funkcjonalny nablonek z naprawionych kom�rek macierzystych. Polączenie tych strategii oferuje obiecującą drogę do spersonalizowanej, dlugoterminowej korekcji molekularnej przyczyny mukowiscydozy.

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