Cystic fibrosis

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== Cystic Fibrosis  ==
 
== Cystic Fibrosis  ==
  
Cystic Fibrosis is an [[Autosomal recessive disease|autosomal recessive disease]] located on [[Chromosome|chromosome]] 7. Cystic Fibrosis is caused by a mutation to the [[CFTR|CFTR]] ([[CFTR|Cystic Fibrosis Transmembrane Conductance Regulator]]) channel.&nbsp;The most common mutation is&nbsp;ΔF508, accounting for 70% of mutations in the [[Ethnicity|Caucasin]] UK population,&nbsp;in which the [[Codon|triplet code]]&nbsp;([[Codon|codon]]) for the [[Amino acid|amino acid]] [[Phenylalanine|phenylalanine]] is deleted, disrupting Cl<sup>-</sup> transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis.<br>
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Cystic Fibrosis is an [[Autosomal recessive disease|autosomal recessive disease]] located on [[Chromosome|chromosome]] 7. Cystic Fibrosis is caused by a mutation to the [[CFTR|CFTR]] ([[CFTR|Cystic Fibrosis Transmembrane Conductance Regulator]]) channel.&nbsp;The most common mutation is&nbsp;ΔF508, accounting for 70% of mutations in the [[Ethnicity|Caucasin]] UK population,&nbsp;in which the [[Codon|triplet code]]&nbsp;([[Codon|codon]]) for the [[Amino acid|amino acid]] [[Phenylalanine|phenylalanine]] is deleted, disrupting Cl<sup>-</sup> transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis.<br>  
  
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>
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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>  
  
 
Cystic Fibrosis&nbsp;can be divided in to five classes:  
 
Cystic Fibrosis&nbsp;can be divided in to five classes:  
  
Class I: [[Premature Stop Codon|Premature Stop Codons]] (e.g. W1282X)
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Class I: [[Premature Stop Codon|Premature Stop Codons]] (e.g. W1282X)  
  
Class II: [[Abnormal Processing|Abnormal Processing]] (e.g. ΔF508)
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Class II: [[Abnormal Processing|Abnormal Processing]] (e.g. ΔF508)  
  
Class III: [[Altered Regulation|Altered Regulation]] (e.g. G551D)
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Class III: [[Altered Regulation|Altered Regulation]] (e.g. G551D)  
  
Class IV: [[Conductance Defect|Conductance Defect]] (e.g. R117H)
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Class IV: [[Conductance Defect|Conductance Defect]] (e.g. R117H)  
  
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]&nbsp;(e.g. A455E)<br>
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Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]&nbsp;(e.g. A455E)<br>  
  
 
== Approaches to Treatment  ==
 
== Approaches to Treatment  ==
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[[Pharmacotherapy of Cystic Fibrosis|Pharmacotherapy]]  
 
[[Pharmacotherapy of Cystic Fibrosis|Pharmacotherapy]]  
  
[[Alternative Channel Therapy|Alternative Channel Therapy]]<br>
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[[Alternative Channel Therapy|Alternative Channel Therapy]]<br>  
  
 
==== Pancreatic Function  ====
 
==== Pancreatic Function  ====

Revision as of 16:20, 11 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 can be divided in to five 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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