Cystic fibrosis

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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


Alternative Channel Therapy

Pancreatic Function

Pancreatic Enzyme Replacement

Nutrional Regime


  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.
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