Cystic fibrosis
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[[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> | [[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> | ||
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== Cystic Fibrosis Classes == | == Cystic Fibrosis Classes == | ||
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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)< | + | Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]] (e.g. A455E)<ref>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.</ref> |
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== Approaches to Treatment == | == Approaches to Treatment == | ||
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[[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]] | [[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]] | ||
| − | Nutrional Regime | + | Nutrional Regime |
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| + | === References === | ||
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Revision as of 13:27, 13 November 2010
Contents |
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
Oral and Inhaled Antibotics
Pancreatic Function
Nutrional Regime
References
- ↑ 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.
