Cystic fibrosis: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| 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. The most common mutation is ΔF508, accounting for 70% of mutations in the [[Ethnicity|Caucasin]] UK population, in which the [[Codon|triplet code]] 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. | 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. The most common mutation is ΔF508, accounting for 70% of mutations in the [[Ethnicity|Caucasin]] UK population, in which the [[Codon|triplet code]] ([[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> | ||
== Classes of CFTR Mutations<br> == | |||
== Classes of CFTR Mutations == | |||
Class I: [[Premature Stop Codon|Premature Stop Codons]] | Class I: [[Premature Stop Codon|Premature Stop Codons]] | ||
| Line 17: | Line 13: | ||
Class IV: [[Conductance Defect|Conductance Defect]] | Class IV: [[Conductance Defect|Conductance Defect]] | ||
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]] | Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]<br> | ||
== Approaches to Treatment == | == Approaches to Treatment == | ||
| Line 37: | Line 31: | ||
[[Pharmacotherapy of Cystic Fibrosis|Pharmacotherapy]] | [[Pharmacotherapy of Cystic Fibrosis|Pharmacotherapy]] | ||
[[Alternative Channel Therapy|Alternative Channel Therapy]] | [[Alternative Channel Therapy|Alternative Channel Therapy]]<br> | ||
<br> | |||
==== Pancreatic Function ==== | |||
[[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]] | ==== [[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]] ==== | ||
Nutrional Regime | Nutrional Regime | ||
Revision as of 16:45, 8 November 2010
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