Cystic fibrosis: Difference between revisions
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]] ([[ | 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> | ||
== | CFTR is composed of 3 types of domains. There are 12 Transmembrane spanning domains, 2 Nucleotide Binding Domains (NBD’s) and an R domain. The NBD’s are involved in the binding and hydrolysing ATP. | ||
== <u</u><br> == | |||
Class I: [[Premature Stop Codon|Premature Stop Codons]] | Class I: [[Premature Stop Codon|Premature Stop Codons]] | ||
| Line 13: | Line 17: | ||
Class IV: [[Conductance Defect|Conductance Defect]] | Class IV: [[Conductance Defect|Conductance Defect]] | ||
Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]<br> | Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]]<br> | ||
== Approaches to Treatment == | == Approaches to Treatment == | ||
Revision as of 14:40, 10 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.
CFTR is composed of 3 types of domains. There are 12 Transmembrane spanning domains, 2 Nucleotide Binding Domains (NBD’s) and an R domain. The NBD’s are involved in the binding and hydrolysing ATP.
<u
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