Cystic fibrosis: Difference between revisions
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== 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]] ([[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. 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 [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> | ||
Cystic Fibrosis can be divided in to five classes: | Cystic Fibrosis can be divided in to five classes: | ||
Class I: [[Premature Stop Codon|Premature Stop Codons]] (e.g. W1282X) | Class I: [[Premature Stop Codon|Premature Stop Codons]] (e.g. W1282X) | ||
Class II: [[Abnormal Processing|Abnormal Processing]] (e.g. ΔF508) | Class II: [[Abnormal Processing|Abnormal Processing]] (e.g. ΔF508) | ||
Class III: [[Altered Regulation|Altered Regulation]] (e.g. G551D) | Class III: [[Altered Regulation|Altered Regulation]] (e.g. G551D) | ||
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]] (e.g. A455E)<br> | Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]] (e.g. A455E)<br> | ||
== Approaches to Treatment == | == Approaches to Treatment == | ||
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[[Pharmacotherapy of Cystic Fibrosis|Pharmacotherapy]] | [[Pharmacotherapy of Cystic Fibrosis|Pharmacotherapy]] | ||
[[Alternative Channel Therapy|Alternative Channel Therapy]]<br> | [[Alternative Channel Therapy|Alternative Channel Therapy]]<br> | ||
==== Pancreatic Function ==== | ==== Pancreatic Function ==== | ||
Revision as of 16:20, 11 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 (regulatory domain). The NBD’s are involved in the binding and hydrolysis of ATP.
Cystic Fibrosis can be divided in to five 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)
Approaches to Treatment
Lung Function
Oral and Inhaled Antibotics
Pancreatic Function
Nutrional Regime