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Treatment of cystic fibrosis based on understanding CFTR
Author(s) -
Smith A. E.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710062
Subject(s) - cystic fibrosis , chloride channel , cystic fibrosis transmembrane conductance regulator , genetic enhancement , gene product , bioinformatics , gene , computational biology , medicine , biology , microbiology and biotechnology , gene expression , genetics
Summary In the five years since the gene associated with cystic fibrosis was isolated, rapid progress has been made in understanding the structure and function of CFTR, the gene product. Based on the knowledge that CFTR is a cAMP‐regulated chloride channel in the apical surface of epithelia in many tissues, new approaches to treating CF disease have emerged. These include development of agents to open alternative chloride channels, to relocate mutant CFTR, which commonly is mislocalized because of a trafficking defect, and to deliver CFTR using protein or gene therapy. Although the underlying basis of each of these approaches is now well understood, major practical problems face each of them. Nevertheless, it is difficult not to be optimistic that new therapies will emerge.