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New Therapies to Correct the Cystic Fibrosis Basic Defect

Bergeron, Christelle, Cantin, André M.·2021·International Journal of Molecular Sciences
DOI 10.3390/ijms22126193PMC PMC8227161
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Abstract

Rare diseases affect 400 million individuals worldwide and cause significant morbidity and mortality. Finding solutions for rare diseases can be very challenging for physicians and researchers. Cystic fibrosis (CF), a genetic, autosomal recessive, multisystemic, life-limiting disease does not escape this sad reality. Despite phenomenal progress in our understanding of this disease, treatment remains difficult. Until recently, therapies for CF individuals were focused on symptom management. The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its product, a protein present at the apical surface of epithelial cells regulating ion transport, allowed the scientific community to learn about the basic defect in CF and to study potential therapies targeting the dysfunctional protein. In the past few years, promising therapies with the goal to restore CFTR function became available and changed the lives of several CF patients. These medications, called CFTR modulators, aim to correct, potentialize, stabilize or amplify CFTR function. Furthermore, research is ongoing to develop other targeted therapies that could be more efficient and benefit a larger proportion of the CF community. The purpose of this review is to summarize our current knowledge of CF genetics and therapies restoring CFTR function, particularly CFTR modulators and gene therapy.

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Metadata

Authors
Bergeron, C., & Cantin, A. M.
Affiliations
Department of Medicine, Respiratory Division, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada
ORCID
Bergeron, Christelle
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2021-06-08
Volume
22
Issue
12
Pages
6193
ISSN
1422-0067
DOI
10.3390/ijms22126193
PMC
PMC8227161
Cited by
22
References
10
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)

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