Cystic Fibrosis Research

Cystic Fibrosis
research
Elena Rambla
Javier Broch
An introduction to Cystic Fibrosis.
Cystic fibrosis (CF) is one of the UK's most common life-threatening diseases. Cystic
fibrosis is caused by a single defective gene. As a result, the internal organs,
especially the lungs and digestive system, become clogged with thick sticky mucus
resulting in chronic infections and inflammation in the lungs and difficulty digesting
food. You cant catch or develop cystic fibrosis, its something you're born with and
most cases in the UK are now diagnosed soon after birth.

Symptoms that typically develop include persistent cough, wheezing, shortness of
breath and breathing difficulties as well as repeated chest infections. Digestive
problems arise from this disease and can cause malnutrition leading to poor growth
and poor weight gain, bloated abdomen and tummy aches, constipation and
prolonged diarrhoea.

Symptoms usually first develop within the first year of life, but in a minority of cases
may not appear until later in childhood or beyond. The severity of symptoms can
vary and not all people with CF will have every symptom.
Genetic Mutation as the main
cause of cystic fibrosis
Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions
for making a channel that transports negatively charged particles called chloride
ions into and out of cells. Chloride is a component of sodium chloride, a common
salt found in sweat. Chloride also has important functions in cells; for example, the
flow of chloride ions helps control the movement of water in tissues, which is
necessary for the production of thin, freely flowing mucus.
Mutations in the CFTR gene disrupt the function of the chloride channels, preventing
them from regulating the flow of chloride ions and water across cell membranes. As
a result, cells that line the passageways of the lungs, pancreas, and other organs
produce mucus that is unusually thick and sticky.
Causes of Cystic Fibrosis in
certain body parts
In the lungs, cystic fibrosis causes respiratory problems when thicker-than-normal
mucus forms in the airways and lungs. Children who have cystic fibrosis almost
always have breathing problems and frequent lung infections.
In the pancreas, the mucus blockage can interfere with normal digestive processes
and increase the risk of infection. Babies and children who have cystic fibrosis may
not be able to absorb nutrients from food and may have below-normal growth and
development. Weight loss and difficulty gaining or maintaining weight are common
problems for people of all ages who have cystic fibrosis.
In men, cystic fibrosis may affect the development of the vas deferens, which is the
tube that carries sperm. The tube can also become blocked with mucus. Sperm are
still made, but they are not released during ejaculation. This results in infertility.
Women can also struggle to get pregnant due to mucus blockage in the fallopian
tube.

Monohybrid crosses and cystic fibrosis
When one gene is considered at a time in a genetic cross, it is referred to as a
monohybrid cross. Cystic fibrosis fits this pattern because the genes passed to the
next generation may have or not have the allele of cystic fibrosis and they are taken
into account independently. In other words 1 person in 25 carries the faulty CF gene
usually without knowing - over two million people in the UK. If two carriers have a
baby, the child has a 1 in 4 chance of having cystic fibrosis.

We know that the allele of cystic
fibrosis is recessive because although
this condition is not presented
in the first generation, it reappears in
the second .So both affected parents
must have passed their allele to their
daughter.

Treatment for Cystic Fibrosis
The methods used for cystic fibrosis treatment have improved greatly in recent years. Common
forms of treatment in use today include antibiotics, exercise, and chest physical therapy. The
main goals of treatment are to prevent and control infections in the lungs, remove thick, sticky
mucus from the lungs, and prevent blockages in the intestines. An Overview of Cystic Fibrosis
Treatment
Although there is still no cure for CF treatment has improved great in recent years.

The goal of cystic fibrosis treatment is to:
Prevent and control infections in your lungs
Loosen and remove the thick, sticky mucus from your lungs
Prevent blockages in your intestines
Provide adequate nutrition.

Common treatments for lung problems seen in cystic fibrosis may include:
Antibiotics for infections of the airways
Chest physical therapy
Exercise

To control digestion problems patients should take care on their diet and certain tablets
can aid digestion.
Evaluation of sources
Biology As textbook: This textbook is supplied by the school and contains valid information
about Biology and so can't be misleading.

http://www.biotopics.co.uk/genes/pedigr.html : This website is a good source which
specialises in genetic problems and inherited diseases. It is an adequate website for
someone who needs help with genetic problems proving to be clear and simple to
understand. However information is kept very simple and not much details are given.

http://www.ncbi.nlm.nih.gov/pubmed/15859745: The website is the US National Library of
Medicine. It is specific about medical issues and the articles are written by doctors with
medical experience. This shows that it is a reliable source as these people are professionals
and know well their topic.

http://cystic-fibrosis.emedtv.com/cystic-fibrosis/treatment-for-cystic-fibrosis.html : This
website is all about health information. It talks about different health problems and you can
find specific information about different diseases. It is a reliable source because it is a
webpage written by professionally qualified doctors and scientists and their information is
valid .

https://www.cysticfibrosis.org.uk: This is a webpage written by a charity that provides help to
people suffering from cystic fibrosis. It is a very reliable source with good quality information
edited by experts.

Cystic Fibrosis Research

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