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Fig. 1 | Genome Medicine

Fig. 1

From: Targeted therapies to improve CFTR function in cystic fibrosis

Fig. 1

The different classes of CFTR gene mutations and the mechanisms of action of CFTR potentiators (such as ivacaftor), correctors (such as lumacaftor) and production correctors (such as ataluren). CFTR gene mutations are categorized into six classes. Mutation classes I, II, V and VI result in an absence or reduced quantity of CFTR protein at the cel membrane, whereas mutation classes III and IV influence the function or activity of CFTR at the cell membrane. Potentiators increase the function of CFTR channels expressed at the apical surface of epithelial cells; for example, ivacaftor increases the probability of Gly551Asp-CFTR channel opening. Correctors improve the intracellular processing and delivery of mutant CFTR protein, allowing more to reach the cell surface; for example, lumacaftor in Phe508del-CFTR. Production correctors (read-through agents) promote the read-through of premature termination codons in mRNA, generating more production of CFTR protein; for example, ataluren in class I CFTR mutations

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