Mutations within the gene encoding for the chloride ion channel CFTR results in cystic fibrosis, the most common autosomal recessive genetic disease in the Caucasian population. CFTR regulates absorption and secretion mechanisms across intestinal and airway mucosae. Although the intestinal phenotype can be clinically handled, chronic infection and inflammation of the lungs of CF patients remains the principal cause of morbidity and mortality.
The aim of this Research Topic is to provide to the readers the most recent information available on “Strategies to circumvent the CFTR defect in cystic fibrosis”. The chapter is divided in three mains parts:
The first part describes in depth the CFTR structure, processing and regulation of the normal and mutant ion channels. The CFTR gene is affected by more than a thousand of mutations, which are grouped in VI classes according to their consequences on CFTR turnover and function. The hope in this complexity is that it provides many possible targets to correct the CFTR defects.
The goal of the second part of the chapter is to discuss the molecular targets of CFTR through its transcription, folding, transport to the membrane and regulation.
Finally, the last part will discuss the development of molecules to rescue CFTR channel function. The chapter is wrapped up by the point of view of the clinician regarding hope for the patients to witness these emerging therapies for the treatment of cystic fibrosis.
Mutations within the gene encoding for the chloride ion channel CFTR results in cystic fibrosis, the most common autosomal recessive genetic disease in the Caucasian population. CFTR regulates absorption and secretion mechanisms across intestinal and airway mucosae. Although the intestinal phenotype can be clinically handled, chronic infection and inflammation of the lungs of CF patients remains the principal cause of morbidity and mortality.
The aim of this Research Topic is to provide to the readers the most recent information available on “Strategies to circumvent the CFTR defect in cystic fibrosis”. The chapter is divided in three mains parts:
The first part describes in depth the CFTR structure, processing and regulation of the normal and mutant ion channels. The CFTR gene is affected by more than a thousand of mutations, which are grouped in VI classes according to their consequences on CFTR turnover and function. The hope in this complexity is that it provides many possible targets to correct the CFTR defects.
The goal of the second part of the chapter is to discuss the molecular targets of CFTR through its transcription, folding, transport to the membrane and regulation.
Finally, the last part will discuss the development of molecules to rescue CFTR channel function. The chapter is wrapped up by the point of view of the clinician regarding hope for the patients to witness these emerging therapies for the treatment of cystic fibrosis.
