How is Cystic Fibrosis currently treated and what are the potential cures in the near future?
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Course
Unit 1
Institution
AQA
A very extensive, fully referenced essay of 5000 words on the topic of Cystic Fibrosis and whether it could close the gap between developing and developed countries. It received 48/50 and has been commended for being one of the best essays written for the subject. It involves the views and opinions...
How is Cystic Fibrosis currently treated and
what are the potential cures in the near
future?
Cystic Fibrosis is a genetic condition which currently affects more than 10,800 people in the
U.K.1 It is caused by a mutation of the CFTR gene on the 7th chromosome. It is a recessive
hereditary condition which means that both parents must be at least carriers of the faulty gene for
it to be inherited. Those with the condition are homozygous recessive individuals. It is non-
contagious meaning that to have Cystic Fibrosis you must be born with it. One in every 25
people carries the faulty gene, however due to the fact it is caused by recessive alleles, a lot
fewer people end up with the condition than one might expect. The condition is most common
throughout populations of northern European descent.
Cystic Fibrosis is hard to remove from natural selection or by other means since you can't
generally tell those who have an abnormal CF gene, therefore we rely on phenotype rather than
genotype due to it being a recessive mutation that will be passed on. Since natural selection
usually depends on phenotype rather than genotype we choose mates based on physical
appearance rather than genetic mutations. Since people can be carriers of the gene without
actually experiencing any symptoms of the condition, it can go completely unnoticed until two
individuals who are both carriers of the CFTR gene are together and are having children which
would then allow the condition to spread into the population without any selection pressure.
Problems for those with CF
Cystic Fibrosis is generally life limiting. The defective gene causes several problems for those
who suffer from the condition, mainly the thick, sticky build-up of mucous in the lungs and
pancreas which means that bacteria becomes trapped more easily and blocks airways which
combined give a much larger risk of infection, lung congestion and the formation of scar tissue
all leading to respiratory failure. As the small airways become partially covered in scar tissue,
exhalation issues are caused and air becomes ‘trapped’ in the alveoli causing CF patients to
appear to have abnormally large lower chests near the bottom of the rib cage. The huge amount
of mucous in the pancreas inhibits the release of enzymes meaning that those suffering are
required to take additional digestive pancreatic enzymes so that they can absorb the nutrients
everyone requires to function.
The condition affects many parts of the body including but not limited to:
- Lungs
- Pancreas
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