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Genetics and epithelial cell dysfunction in cystic fibrosis

proceedings of a symposium held in Kimberly, Ontario, Canada, November 12-15, 1986
  • 223 Pages
  • 2.88 MB
  • 8052 Downloads
  • English

Liss , New York
Cystic fibrosis -- Genetic aspects -- Congresses., Cystic fibrosis -- Pathophysiology -- Congresses., Epithelial cells -- Congresses., Chlorides -- Permeability -- Congresses., Cystic Fibrosis -- familial & genetic -- congresses., Cystic Fibrosis -- physiopathology., Epithelium -- physiopathology -- congre
Statementeditors, John R. Riordan, Manuel Buchwald.
SeriesProgress in clinical and biological research ;, v. 254
ContributionsRiordan, John R., Buchwald, Manuel., Canadian Cystic Fibrosis Foundation.
Classifications
LC ClassificationsRC858.C95 G46 1987
The Physical Object
Paginationxv, 223 p. :
ID Numbers
Open LibraryOL2399315M
ISBN 100845151045
LC Control Number87029331

Title: Genetics and epithelial cell dysfunction in cystic fibrosis This book examines the advances being made in the study of the physiology, cell biology, and molecular genetics of cystic fibrosis. Genetics and Epithelial Cell Dysfunction in Cystic Fibrosis: Proceedings (Progress in Clinical & Biological Research) (Vol ): Medicine & Health Science Books @ Full text Full text is available as a scanned copy of the original print version.

Get a printable copy (PDF file) of the complete article (K), or click on a page image below to browse page by : D J H Brock. Genetics and epithelial cell dysfunction in cystic fibrosis: proceedings of a symposium held in Kimberly, Ontario, Canada, NovemberAuthor: John R Riordan ; Manuel Buchwald ; Canadian Cystic Fibrosis Foundation.

Despite the many milestones in cystic fibrosis (CF) research, progress toward curing the disease has been slow, and it is increasingly difficult to grasp and use the already wide and still growing range of diverse methods currently employed to study CF so as to understand it in its.

Respiratory epithelia from subjects with cystic fibrosis exhibit at least three abnormalities in proximal respiratory epithelial function: 1) a raised magnitude of transepithelial PD; 2) both absolutely and disproportionately greater reductions of PD after amiloride superfusion; 3) reduced permeability to Cl −.Cited by: 1.

Clinical and epidemiological aspects of cystic fibrosis. Cystic fibrosis (CF) is a genetic disease that is common in populations of European affects today 6, patients in France, close to 30, in the US and aro worldwide.

It is an autosomal recessive disease meaning that both parents must be carrier of one deleterious allele of the gene responsible for the disease. Thus, only a fraction of the CFMD variants cause CF and the status of many other variants is unclear.

CFTR2: assigning disease liability of CFTR variants. To define exactly which CFTR variants cause CF, a project was started in the late s called the Clinical and Functional Translation of CFTR, or effort was designed to collect all CFTR variants reported in individuals who Cited by: 4.

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The genetic basis of cystic fibrosis (CF) has been recognized by the medical community since the s. 1 A genetic etiology and autosomal-recessive inheritance was suggested by the recurrence of CF in siblings and the absence of the illness in by: 5. Cystic fibrosis (CF) is a common,lethal,autosomal recessive disorder caused by mutations in the CFTR gene, with the most common mutation (∆F) occurring on ~70% of CF chromosomes.

Dysfunction of the CFTR protein, which acts as an apically localized epithelial chloride ion channel, results in the classical manifestations of CF: salty sweat. Insights into disease mechanism. Molecular basis of CFI'R dysfunction. Almost 2, variants have been reported to the Cystic Fibrosis Mutation Database, one of the first and most successful locus-specific databases.

Among these variants, 40% are predicted to cause substitution of a single amino acid, 36% are expected to alter RNA processing (including nonsense, frameshift and mis Cited by: Cystic fibrosis (CF) is the most common recessively inherited life limiting disease in the UK. It is caused by a mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR).

This results in dysfunction in the regulation of salt and water across the cell membranes of secretory epithelial cells and in thickened secretions in.

The affected gene is the cystic fibrosis transmembrane regulator (CFTR), which when mutated produces an abnormal production of the cystic fibrosis transmembrane regulator protein [1][2][3].

CFTR dysfunction mainly affects epithelial cells, although there is evidence of a role in immune cells. Cystic fibrosis affects several body systems, and morbidity and mortality is mostly caused Author: Joseph Stuart Elborn.

Past therapeutic successes were largely based on targeting the consequences of the cystic fibrosis transmembrane regulator dysfunction, such as phlegm retention, infection, and inflammation, but new therapies may be able to address the underlying abnormality rather than its downstream effects.

The development of CF results from a misfolded or improperly functioning protein known as the cystic fibrosis conductance regulator (CFTR).

The protein works in the apical membrane of epithelial cells in organs throughout the body as a chloride ion channel, which, as its name suggests, allows for the passage 5/5(1). CFTR dysfunction mainly affects epithelial cells, although there is evidence of a role in immune cells.

Cystic fibrosis affects several body systems, and morbidity and mortality is mostly caused by bronchiectasis, small airways obstruction, and progressive respiratory impairment.

Cystic fibrosis (OMIM ) is a life-limiting auto- somal recessive disorder that affects ~70, individu- als worldwide. The condition affects primarily those of European descent, although cystic fibrosis has been reported in all races and Size: 1MB.

Cystic fibrosis is a single-gene autosomal recessive disorder characterized by chronic airway infection, pancreatic insufficiency, gastrointestinal dysfunction, and male infertility.

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Cystic fibrosis is caused by a mutation in the cystic fibrosis membrane conductance regulator (CFTR) protein.

The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells.

CF is caused by mutations in a single large gene on chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein [].

Clinical disease requires disease-causing mutations in both copies of the CFTR gene. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene affect multiple organs, including the intestine, sweat glands, pancreas and the reproductive system, but cystic fibrosis lung disease causes most morbidity and leads to premature mortality in cystic fibrosis patients [ 2 ].Cited by: 7.

Cystic fibrosis (CF) is the most common genetic disorder that causes a significant damage in secretory epithelial cells due to the defective ion flux across the cystic fibrosis transmembrane.

The discovery of the causative, mutated gene encoding a defective chloride channel in epithelial cells in elucidated the pathophysiology of CF and opened up new avenues of treatment.

Despite these major advances, however, it is still unclear how mutations in the. Cystic fibrosis is a genetic disorder caused by the dysfunction of a protein that transports sodium and chloride across cell membranes.

This protein is called the cystic fibrosis transmembrane. of CFTR Chloride Channel Dysfunction in Cystic Fibrosis ). The gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) has been identified (Riordan et al., ) and over in CF airway epithelial cells and in sweat gland duct cells.

Description Genetics and epithelial cell dysfunction in cystic fibrosis PDF

In this review, we address the evidence for a critical role of dysfunctional airway epithelial cells in chronic airway inflammation and remodelling in CF and COPD, highlighting the common mechanisms involved in the epithelial dysfunction as well Cited by: CFTR dysfunction mainly affects epithelial cells, although there is evidence of a role in immune cells.

Cystic fibrosis affects several body systems, and morbidity and mortality is mostly caused. (6)From the Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, [email protected] The airway epithelium forms a barrier between the internal and external environments.

Epithelial dysfunction is critical in the pathology of many respiratory diseases, including cystic by: Cystic Fibrosis A Genetic Disorder Kindle Ebook - Norman Bridwell Library Cystic Fibrosis Is A Common Genetic Disease Within The White Population In The United States The Disease Occurs In 1 In To.

Severe dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) causes cystic fibrosis (CF), a life-shortening disorder in which progressive lung disease is unfortunately by: Establishment of a tissue culture system for epithelial cells derived from human pancreas: a model for the study of cystic fibrosis.

Cell Sci ; 87(Pt 5) [PubMed].Cystic Fibrosis (CF) Genetic condition that affects the body's ___ ___ and causes the internal organs, especially the lungs and digestive system, to become clogged with thick sticky mucus, resulting in chronic infections and inflammation of the lungs.