16 June 2018 1. What do scientists currently believe is the cause of CF? In othe
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Question
16 June 2018 1. What do scientists currently believe is the cause of CF? In other words, how is the faulty gene inherited and what direct effect does that have on the affected cells? 2. Draw a fow chart/concept map that illustrates the mechanism whereby the faulty CF gene causes the production of thick mucus with less water in it than normal. 3. What specific part of the cellistructure allows the mucus secretions to be thick and viscous rather than fluid (e., is it a membrane channel, organelle or something else)? Please be specific and describe the step-by-step mechanism whereby this altered structure/part of the cell causes the secretions to contain less water 4. Why does Alvin have salt crystals forming on his skin? Explain the mechanism for this 5. What is the accepted treatment for children with cystic fibrosis? Make sure to list at least three and explain why they work (ie., what is the purpose of each individual treatment). 6. List and explain the mechanism of at least two experimental treatments that are currently being tried to help patients with cystic fibrosis. 7. Briefly describe how gene therapy may help cure a genetically inherited disease like cystic brosis F4 FS F7 F8 F9Explanation / Answer
1). Cystic fibrosis is a genetic disorder. The gene responsible for the cause of CF is cystic fibrosis transmembrane conductance regulator CFTR gene. The cytogenetic location of CFTR is 7q31.2. A single defect in this gene leads to cystic fibrosis (effect). Delta-F508 is the most common defect (70%) observed in patients with CFTR defective genes.
The CFTR protein acts like a bridge on the cell membrane of lung cells. The CFTR protein therefore connects the exterior with the interior of the cell. Chloride ions pass in and out of the lung cell through CFTR protein channel.
In other words, the CFTR protein controls and maintains the influx and efflux of chloride ions thereby regulating the water flow across the lungs. In cystic fibrosis patients, this transport is impaired and causes the symptoms such as wheezing, coughing, pneumonia.
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