By Sam, Sophie, Charlie and Chris

What is it?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.

CT

GA

CT

AT

TT

GT

GT

T

Isoleucine 506

Isoleucine 507

Phenylalanine 508

Glycine 509

Valine 510

DNA strand

GC T TT G T G T TCTA TA

Isoleucine 506

Isoleucine 507

Phenylalanine 508

Glycine 509

Valine 510

Deleted bases

Isoleucine 507 remains despite the deletion

GT G T G T TCTA TA

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.

GT G T G T TCTA TA C TT

Chloride ions

SymptomsThis is caused by the thick mucus in the lungs, which your body tries to shift by coughing it up.

Recurring chest and lung infectionsMalnutrition

Clubbed fingers and toesPolyps inside the nostrilsLarge, odorous stools

Salty tasting skin

Troubling cough and wheeze

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

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Other illnesses associated...diabetes,liver damage,infertility, andosteoporosis (weak and brittle bones).

The expectancy for a person with cystic fibrosis

is between 30 and 40.

DiagnosisA 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).

TreatmentTreatments 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.

Daily exercise and physiotherapy help to limit the build up of mucus in the lungs and thus limit the affect the disease has.•In the future however, gene therapy may find a way of eradicating the disease by changing the DNA which causes the disease.

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

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.

Gene therapy