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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Chronic Pancreatitis I: Introduction01:25

Chronic Pancreatitis I: Introduction

Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...
Chronic Pancreatitis II: Pathophysiology01:21

Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...
ABC Transporters: Exporter01:31

ABC Transporters: Exporter

ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
ABC Transporters: Importer01:27

ABC Transporters: Importer

ATP-binding cassette or ABC transporters are a class of ATP-driven pumps that hydrolyze ATP to move solutes across the membrane. They can be grouped into importers and exporters. While exporters are present in all domains of life, importers exist only in bacteria and some plants.
In bacteria, based on the number of transmembrane helices and the chemical nature of their substrates, the ABC importers can be divided into three types:
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...

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Related Experiment Video

Updated: May 28, 2026

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice
08:55

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

Link between CFTR mutations and ABPA: a systematic review and meta-analysis.

Ritesh Agarwal1, Ajmal Khan, Ashutosh N Aggarwal

  • 1Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India. riteshpgi@gmail.com

Mycoses
|October 18, 2011
PubMed
Summary

Cystic fibrosis transmembrane conductance regulator (CFTR) mutations are more common in patients with allergic bronchopulmonary aspergillosis (ABPA). Further research is needed to confirm this link between CFTR mutations and ABPA.

Related Experiment Videos

Last Updated: May 28, 2026

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice
08:55

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

Area of Science:

  • Medical Research
  • Genetics
  • Pulmonology

Background:

  • A biological link between cystic fibrosis transmembrane conductance regulator (CFTR) mutations and allergic bronchopulmonary aspergillosis (ABPA) is biologically plausible.
  • Investigating the frequency of CFTR mutations in ABPA patients is crucial for understanding potential pathogenetic mechanisms.

Purpose of the Study:

  • To systematically review and determine the frequency of CFTR mutations in individuals diagnosed with ABPA.
  • To assess the association between CFTR mutations and ABPA compared to control and asthma populations.

Main Methods:

  • A systematic review of studies from PubMed and EmBase databases reporting CFTR mutations in ABPA.
  • Pooled odds ratios (OR) and 95% confidence intervals (CI) were calculated using fixed and random effects models.
  • Statistical heterogeneity and publication bias were evaluated using I(2) test, Cochran-Q statistic, and graphical/statistical methods.

Main Results:

  • Four studies comprising 79 ABPA patients and 268 controls were included in the analysis.
  • The odds of encountering CFTR mutations were significantly higher in the ABPA group compared to both the general control group (OR 10.39) and the asthma population (OR 5.53).
  • No significant statistical heterogeneity or publication bias was detected across the included studies.

Conclusions:

  • A potential pathogenetic link exists between CFTR mutations and ABPA, supported by increased mutation frequency in ABPA patients.
  • The small sample size necessitates further research with uniform methodology and comprehensive CFTR gene sequencing to confirm these findings.
  • Future studies should focus on elucidating the role of CFTR mutations in the development of ABPA.