Cystic fibrosis
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.
Classes of CFTR Mutations
Class I: Premature Stop Codons
Class II: Abnormal Processing
Class III: Altered Regulation
Class IV: Conductance Defect
Class V: Reduced Protein Synthesis
Approaches to Treatment
Lung Function
Oral and Inhaled Antibotics
Pancreatic Function
Nutrional Regime