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Mukowiscydoza

Mukowiscydoza

Karima Gourari-Bouzouina / Zahia Boucherit-Otmani

92,37 €
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Editorial:
KS OmniScriptum Publishing
Año de edición:
2025
Materia
Biologia, ciencias de la vida
ISBN:
9786209321849
92,37 €
IVA incluido
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Sobre IBD

Mukowiscydoza (CF) to śmiertelna choroba genetyczna, dotykająca głównie rasy białej, spowodowana mutacjami w genie CFTR kodującym kanał jonowy chlorkowy. Najczęstsza mutacja ∆F508 zmienia fałdowanie genu CFTR i uniemożliwia jego ekspresję na powierzchni komórek nabłonkowych, zakłócając transport jonów i wody oraz prowadząc do powstawania gęstego śluzu, charakterystycznego dla choroby płuc u chorych na mukowiscydozę. Leczenie poczyniło postępy, a antybiotyki stosowano w leczeniu przewlekłych infekcji, a modulatory CFTR (iwakaftor, tezakaftor, eleksakaftor) poprawiały funkcję białek. Jednak wielu pacjentów z rzadkimi mutacjami lub lekoopornością pozostaje bez leczenia. Nowe terapie koncentrują się obecnie na terapii genowej, która koryguje lub zastępuje wadliwy gen CFTR, oraz na terapii komórkowej, która regeneruje funkcjonalny nabłonek z naprawionych komórek macierzystych. Połączenie tych strategii oferuje obiecującą drogę do spersonalizowanej, długoterminowej korekcji molekularnej przyczyny mukowiscydozy.

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