Cystic Fibrosis(03pp)


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  • Cystic Fibrosis(03pp)

    1. 1. By Sam, Sophie, Charlie and Chris
    2. 2. What is it? <ul><li>Cystic fibrosis (CF) is an inherited disease that affects the lungs, digestive system, sweat glands, and male fertility. Its name derives from the fibrous scar tissue that develops in the pancreas, one of the principal organs affected by the disease. </li></ul>
    3. 3. DNA strand C T G A C T A T T T G T G T T Isoleucine 506 Isoleucine 507 Phenylalanine 508 Glycine 509 Valine 510
    4. 4. G C T T T G T G T T Phenylalanine 508 Glycine 509 Valine 510 Deleted bases Isoleucine 507 remains despite the deletion C T A T A Isoleucine 506 Isoleucine 507
    5. 5. The CFTR (cystic fibrosis transmembrane conductance regulator) is created in the endoplasmic reticulum. The CFTR then travels to the cell membrane. However the quality control flags the protein for destruction. G T G T G T T C T A T A
    6. 6. Chloride ions G T G T G T T C T A T A C T T
    7. 7. Symptoms This is caused by the thick mucus in the lungs, which your body tries to shift by coughing it up. <ul><li>Recurring chest and lung infections </li></ul><ul><li>Malnutrition </li></ul><ul><li>Clubbed fingers and toes </li></ul><ul><li>Polyps inside the nostrils </li></ul><ul><li>Large, odorous stools </li></ul><ul><li>Salty tasting skin </li></ul><ul><li>Troubling cough and wheeze </li></ul>These can be quite severe, such as bronchitis or pneumonia. They are caused by the continual build up of mucus in your lungs, which provides an ideal breeding ground for bacteria. To prevent the risk of cross infection, it is recommended that people with cystic fibrosis do not come into close contact with one another. this is due to the mucus clogging your digestive system. The mucus blocks the ducts in your pancreas that produce a food-digesting enzyme, so not enough of this enzyme reaches your intestines. As a result, your body cannot digest much of the essential nutrients in your food, and you may struggle to put and keep on weight. In children with cystic fibrosis, this can even result in delayed puberty if they are severely underweight. 'clubbing' is where the ends of the fingers and toes become swollen and rounded. This deformity is commonly seen in congenital heart disease patients, but it is also sometimes evident in those who have certain lung conditions, including cystic fibrosis, and appears as the condition progresses. However, the exact reason for it occurring is not fully understood. these are small, soft growths in your nasal passages. They are caused by inflammation of your nose and sinuses due to a build up of mucus. this is a result of poor digestion caused by mucus build up in your digestive system. As much of the food you eat cannot be digested, stools tend to be greasy and bulky, and may contain undigested food stuffs. Due to the decreased amount of Chloride ions reaching the sweat and therefore leaving a salty taste on the skin Reset
    8. 8. Other illnesses associated... <ul><li>diabetes, </li></ul><ul><li>liver damage, </li></ul><ul><li>infertility, and </li></ul><ul><li>osteoporosis (weak and brittle bones). </li></ul>The expectancy for a person with cystic fibrosis is between 30 and 40.
    9. 9. Diagnosis <ul><li>A weak electrical current is sent through the forearm, stimulating the person to sweat. This sweat is then measured for saltiness, using a machine called a digital chloridometre which measures the amount of chloride ions (A reading of above 60m mol/ letre indicates a person with Cystic fibrosis). </li></ul>
    10. 10. Treatment <ul><li>Treatments can help a person live with Cystic fibrosis by controlling the symptoms such as stomach infections and inflamation. Whilst a lung transplant may help in the worst of cases. </li></ul><ul><li>Daily exercise and physiotherapy help to limit the build up of mucus in the lungs and thus limit the affect the disease has. </li></ul><ul><li>In the future however, gene therapy may find a way of eradicating the disease by changing the DNA which causes the disease. </li></ul>
    11. 11. Gene therapy Vector- Carrier of DNA for the insertion of the desired DNA into a chromosome, commonly a virus which has been changed to transport human DNA is used. Virus enters cell by endocytosis Nucleus
    12. 12. Gene therapy Desired DNA is taken in by the nucleus and the fault is repaired The DNA within the nucleus is now corrected and the cystic fibrosis gene or the lack of the phenylanine has been resolved.