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Cystic Fibrosis and the disorders of chlorine mechanisms
Transcript
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- THE END
Future treatments
- Recombinant DNA Technology
- Gene therapy
What is Cystic Fibrosis
- Autosomal recessive genetic disorder
- Deletion on long arm of chromosome 7
- Causes formation of thick mucus
- Mostly affects Caucasians
CFTR Gene
- Caused my malfunction of the CFTR gene
- Cystic Fibrosis Transmembrane Conductance regulator
- contains 5 domains
Signs and Symptoms of CF
Cystic Fibrosis and the disorders of chlorine mechanisms
By:Oumie Ceesay
Complications caused by CF
- Chronic infections- collapsed lungs
- respiratory failure
- nutritional deficiencies
- Diabetes
- Blocked bile ducts
- infertility in men and women
- electrolyte imbalance
Biochemistry: CFTR and Cystic Fibrosis Disease
Mutated form is recognized by ER as folded
primary coated endocytic vesicles fuse with sorting endosomes
No Treatment But...
Endosormal sorting machinery: Tumor susceptibility 101 and chromatin modifying protein 4B bind to deltaF508-CFTR
Effects of misfolding of the CFTR protein on the airways and sweat glands
- Antibiotic Therapies of bacterial infection
- Flutter device
- DNase
- Nutrition and eating right
No Treatment but
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