Cystic Fibrosis(03pp)

By Sam, Sophie, Charlie and Chris

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

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

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

Chloride ions G T G T G T T C T A T A C T T

Symptoms This is caused by the thick mucus in the lungs, which your body tries to shift by coughing it up. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],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

Other illnesses associated... ,[object Object],[object Object],[object Object],[object Object],The expectancy for a person with cystic fibrosis is between 30 and 40.

Treatment ,[object Object],[object Object],[object Object]

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

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.

Cystic Fibrosis(03pp)

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