Abstract

Use of Potentiators and Correctors to Rescue the Various Effects of Mutations in Cystic Fibrosis

Highlights

  • Cystic fibrosis (CF, MIM # 219700), an autosomal genetic disorder of chloride (Cl-) conductance across epithelial cells which is resulted due to mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR or ABCG2 MIM # 602421) associated with various clinical phenotypes viz respiratory distress, chronic pancreatitis and male infertility due to congenital bilateral absence of the vas deferens (CBAVD, MIM # 22180) [13]

  • Pronounced improvement in predicted survival for CF patients over two decades is due to immense progress in understanding of the biochemistry and molecular biology of the cystic fibrosis transmembrane conductance regulators (CFTR) gene responsible for CF. (Cystic fibrosis foundation 2014 registry)

  • This review will oscillate around the use of two important therapeutic approaches, termed potentiators and correctors” which governed in modulation and repairing the functions of the CFTR protein resulted from some classes of CFTR mutations

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Summary

Introduction

Cystic fibrosis (CF, MIM # 219700), an autosomal genetic disorder of chloride (Cl-) conductance across epithelial cells which is resulted due to mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR or ABCG2 MIM # 602421) associated with various clinical phenotypes viz respiratory distress, chronic pancreatitis and male infertility due to congenital bilateral absence of the vas deferens (CBAVD, MIM # 22180) [13]. Because of this fact, over the past decade, better understanding of the molecular basis of CF and various manifestations which led to the development of molecular therapies that could be to have the immense impact on the CF treatment in accordance to the type of mutation. This review will oscillate around the use of two important therapeutic approaches, termed potentiators and correctors” which governed in modulation and repairing the functions of the CFTR protein resulted from some classes of CFTR mutations. This structural guided therapeutic would be an effective approach for CF treatment. It is utmost important to apprehend the structural and functional aspects of human CFTR transporters in reference to alterations in CFTR protein due to presence of mutation in CFTR gene

Molecular Genetics of Cystic Fibrosis
Biosynthesis and Degradation of CFTR protein
Molecular Mechanism of CFTR Functioning
Spectrum of Mutations in CFTR gene and Their Classification
Classification of CFTR Mutations
CFTR Misfolding and Functions Restoration Using Modulators
Molecular mechanism of action of modulators
Clinical Development of CFTR Modulators
Findings
Future perspectives
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