Cystic fibrosis

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[[CFTR|CFTR]] is composed of 3 types of domains. There are 12 [http://en.wikipedia.org/wiki/Transmembrane_protein Transmembrane] spanning domains, 2 Nucleotide Binding Domains (NBD’s) and an R domain (regulatory domain). The NBD’s are involved in the binding and hydrolysis of ATP.<br>  
 
[[CFTR|CFTR]] is composed of 3 types of domains. There are 12 [http://en.wikipedia.org/wiki/Transmembrane_protein Transmembrane] spanning domains, 2 Nucleotide Binding Domains (NBD’s) and an R domain (regulatory domain). The NBD’s are involved in the binding and hydrolysis of ATP.<br>  
  
Cystic Fibrosis&nbsp;can be divided in to five classes:
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== Cystic Fibrosis Classes  ==
  
 
Class I: [[Premature Stop Codon|Premature Stop Codons]] (e.g. W1282X)  
 
Class I: [[Premature Stop Codon|Premature Stop Codons]] (e.g. W1282X)  
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Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]&nbsp;(e.g. A455E)<br>  
 
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]&nbsp;(e.g. A455E)<br>  
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== Approaches to Treatment  ==
 
== Approaches to Treatment  ==

Revision as of 12:53, 13 November 2010

Contents

Cystic Fibrosis

Cystic Fibrosis is an autosomal recessive disease located on chromosome 7. Cystic Fibrosis is caused by a mutation to the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the Caucasin UK population, in which the triplet code (codon) for the amino acid phenylalanine is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis.

CFTR is composed of 3 types of domains. There are 12 Transmembrane spanning domains, 2 Nucleotide Binding Domains (NBD’s) and an R domain (regulatory domain). The NBD’s are involved in the binding and hydrolysis of ATP.


Cystic Fibrosis Classes

Class I: Premature Stop Codons (e.g. W1282X)

Class II: Abnormal Processing (e.g. ΔF508)

Class III: Altered Regulation (e.g. G551D)

Class IV: Conductance Defect (e.g. R117H)

Class V: Reduced Protein Synthesis (e.g. A455E)


Approaches to Treatment

Lung Function

Physiotherapy and mucolytics

Oral and Inhaled Antibotics

Anti-Inflammatory Drugs

Lung Transplant

Gene Therapy

Pharmacotherapy

Alternative Channel Therapy

Pancreatic Function

Pancreatic Enzyme Replacement

Nutrional Regime

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