Cystic fibrosis

From The School of Biomedical Sciences Wiki
(Difference between revisions)
Jump to: navigation, search
Line 1: Line 1:
 
== 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>  
+
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 [[Frequency of CFTR mutations by 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|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>  
Line 17: Line 17:
 
Class IV: [[Conductance Defect|Conductance Defect]] (e.g. R117H)  
 
Class IV: [[Conductance Defect|Conductance Defect]] (e.g. R117H)  
  
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]&nbsp;(e.g. A455E)<ref>David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf (2007). Emery and Rimoin's Principles and Practice of Medical Genetics e-dition. 5th ed. Amsterdam: Elsevier. p1354-1394.</ref>
+
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]&nbsp;(e.g. A455E)<ref>David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf (2007). Emery and Rimoin's Principles and Practice of Medical Genetics e-dition. 5th ed. Amsterdam: Elsevier. p1354-1394.</ref>  
  
 
<br>  
 
<br>  
Line 45: Line 45:
 
Nutrional Regime  
 
Nutrional Regime  
  
 +
<br>
  
 
+
=== References ===
=== References ===
+
  
 
<references />
 
<references />

Revision as of 13:28, 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)[1]


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


References

  1. David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf (2007). Emery and Rimoin's Principles and Practice of Medical Genetics e-dition. 5th ed. Amsterdam: Elsevier. p1354-1394.
Personal tools
Namespaces
Variants
Actions
Navigation
Toolbox