Cystic Fibrosis-associated Mutations at Arginine 347 Alter the Pore Architecture of CFTR

Cystic Fibrosis: How do CFTR mutations cause cystic fibrosis?

Two major discoveries have transformed our understanding of cystic fibrosis, a genetic disease in which thick secretions accumulate in airways, digestive organs and sperm duct. The first was that cystic fibrosis involves a basic defect in epithelial ion transport [1], which is manifested primarily as the loss of chloride conductance [2]. The connection between the loss of epithelial chloride co...

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

Cystic Fibrosis: Does CFTR Malfunction Alter pH Regulation?

Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran

 Objective(s):  More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...

Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations

The gold standard for diagnosing cystic fibrosis (CF) is a sweat chloride value above 60 mEq/L. However, this historical and important tool has limitations; other techniques should be studied, including the nasal potential difference (NPD) test. CFTR gene sequencing can identify CFTR mutations, but this method is time-consuming and too expensive to be used in all CF centers. The present study c...