Summary
Samenvatting Cystic fibrosis
- Institution
- University Of East Anglia
Applied immunology and infectious diseases - 2nd semester Bullet points, key diagrams and images
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Cystic FibrosisGenetics
Autosomal recessive gene
Mutation in CFTR gene
CFTR:
Chloride channel activated by phosphorylation (cAMP activated PKA)
Phosphorylation of R domain opens chloride channel
2 sets of 6 trans-membrane domains
2 ATP binding cassettes (ABC transporters)
Fluid control:
Epithelial sodium channel (ENaC) is a selective sodium ion channel that
reabsorbs sodium across the apical membrane
ENaC and CFTR control airway surface liquid hydration
Impaired CFTR leads to decreased hydration as only ENaC is functioning
Mutations:
Class I CFTR synthesis – frame shift or deletions
Class II processing of CFTR – mutations leading to defective transport protein
folding
Class III defective ion channel gate – mutations causing protein misfolding
Class IV abnormal chloride turnover – change in CFTR structure
Class V reduce levels of CFTR – alternative splicing or regulation
CFTR
Thousands of possible mutations
F508del most common
G551D – channel isn’t regulated so closed
R334W – chloride conduction reduced
Delta F508:
Phenylalanine is deleted (position 508) in ABC-1
CFTR-DF508 has defective folding so degraded in the proteasome
Non-respiratory Pathology
Pancreas:
Mucous blocks exocrine ducts
Enzymes can’t leave pancreas so proteases breakdown the tissue
Digestive enzymes can’t escape so poor nutrition
DM:
Defective insulin release
Protein catabolism causes inflammation and hyperglycaemia
Infertility:
Male vas deferens blocked
Arrhythmias:
Salt lost through excessive sweat leading to dehydration and electrolyte
imbalances
Non-Pharmacological Treatment
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