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Zystische Fibrose

Zystische Fibrose

Karima Gourari-Bouzouina / Zahia Boucherit-Otmani

92,35 €
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Editorial:
KS OmniScriptum Publishing
Año de edición:
2025
Materia
Biologia, ciencias de la vida
ISBN:
9786209303920
92,35 €
IVA incluido
Disponible

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Sobre IBD

Zystische Fibrose (CF) ist eine tödliche Erbkrankheit, die vorwiegend Menschen kaukasischer Abstammung betrifft und durch Mutationen im CFTR-Gen, das für einen Chloridionenkanal kodiert, verursacht wird. Die häufigste Mutation, ∆F508, verändert die Faltung des CFTR-Proteins und verhindert dessen Expression auf der Oberfläche von Epithelzellen. Dies stört den Ionen- und Wassertransport und führt zu zähem Schleim, einem charakteristischen Merkmal der CF-Lungenerkrankung. Die Behandlungsmöglichkeiten haben sich verbessert: Antibiotika werden zur Behandlung chronischer Infektionen eingesetzt, und CFTR-Modulatoren (Ivacaftor, Tezacaftor, Elexacaftor) verbessern die Proteinfunktion. Dennoch bleiben viele Patienten mit seltenen Mutationen oder Arzneimittelresistenz unbehandelt. Neue Therapieansätze konzentrieren sich nun auf die Gentherapie, um das defekte CFTR-Gen zu korrigieren oder zu ersetzen, sowie auf die Zelltherapie, um funktionsfähiges Epithel aus korrigierten Stammzellen zu regenerieren. Die Kombination dieser Strategien bietet einen vielversprechenden Weg zu einer personalisierten, langfristigen Korrektur der molekularen Ursache von CF.

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