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Asked by billy to Emma, James, Jayne, Kara, Sharon on 25 Mar 2011 in Categories: General.
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Sharon Sneddon answered on 22 Mar 2011:
Hi Billy,
Cystic Fibrosis (CF) is a life-threatening inherited disease, this means it’s passed down from your parents and you need to get one of the gene mutations from your mum and one from your dad. It affects over 8,500 people in the UK but over two million people in the UK carry the faulty gene that causes Cystic Fibrosis – around 1 in 25 of the population.Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus. This makes it hard to breathe and digest food. People with CF have to have physiotherapy to remove the mucus from their lungs every day and take lots of medication to stay healthy. They are in hospital regularly due to catching colds and infections which damages thier lungs. They also need to take enzymes before every meal to help them digest food properly. Around half of the people with CF can expect to live over 38 years, although improvements in treatments mean a baby born today could expect to live even longer.
There is currently no cure for Cystic Fibrosis, This makes me sad as my 5 year old nephew has this disease, but treatments are improving so hopefully in a few years, there people will be living much longer and there may even be a cure.
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Kara Cerveny answered on 22 Mar 2011:
In basic terms, cystic fibrosis is genetic disease of the mucousal epithelium (a fancy term for the linings of the airways and gut (stomach plus intestines). The most common form of cystic fibrosis is homozygous recessive and occurs when a person has two defective copies of a gene that codes for a protein that allows for the transport of chloride ions (the Cl part of NaCl, the chemical formula for table salt). People with this mutation have very salty sweat and are prone to upper respiratory infections and have multiple functional defects in their gut and airways. It is one of the first diseases that was treated with gene therapy, and because of safety concerns, that strategy was halted. I think you can probably find a lot more information on cystic fibrosis at various websites and in textbooks, but hopefully my answer and this link will get you started. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/
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Jayne Charnock answered on 22 Mar 2011:
Hi Billy,
Cystic fibrosis is caused by a mutation in the gene for the protein ‘cystic fibrosis transmembrane conductance regulator (CFTR)’. It sounds boring but its really important in regulating the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. People mostly have problems with their lungs and get alot of chest infections. My friend has CF and is in and out of hospital alot 🙁
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James Chan answered on 25 Mar 2011:
Hi Billy, cystic fibrosis is a genetic disease where the patient suffers from lung problems, poor growth, diarrhoea and infertility, among other things, and often have a shortened lifespan. It is an autosomal recessive gene, so you need 2 copies of it to be affected, and having 1 copy makes you a carrier, so it’s important to get genetic testing and counselling for carriers if they want to have kids. The affected gene codes for a protein that controls the movement of salt into and out of cells, so a defective protein leads to thick, sticky mucus, like in the lungs, and this leads to infections. It will also affect all other regions of the body that secrete fluids and juices. It’s very sad that a single gene can cause such devastating problems througout the body, but fortunately there’s a lot of promising research going on in this area, including gene therapy.
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