• Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

Cystic Fibrosis

Extracts from this document...

Introduction

Cystic Fibrosis Cystic Fibrosis (CF) is an inherited disease caused by a mutation in a gene responsible for producing a protein called "cystic fibrosis transmembrane regulator" (CFTR). Most people have 2 genes which produce this protein, but only one is needed to prevent the disease. This means that CF is "autosomal recessive", meaning that a person with the disease has a mutation in both CFTR (one mutated gene from each parent). Someone with one mutated gene and one normal gene is a carrier. Carriers do not show the symptoms of CF, as they have one working gene, but they may pass a copy of the defective gene onto their children. ...read more.

Middle

In the diagram above, there is too little water in the mucus. The CFTR channel opens and allows chloride ions to diffuse out of the cell into the mucus. The sodium channel is closed so the sodium ions cannot enter the cell. Together, this increases the concentration of solutes in the mucus, causing water to travel by osmosis out of the cell and into the mucus. The diagram below shows a cell in a cystic fibrosis sufferer. There is no chloride channel, so the direction of osmosis cannot be changed, so water is constantly leaving the mucus. This leaves the mucus sticky and viscous. In healthy people, mucus in the trachea, bronchi and bronchioles traps any microorganisms or dust to help prevent infection. ...read more.

Conclusion

Mucus can also affect the digestive system by blocking the pancreatic duct, preventing digestive enzymes being released into the intestines. This causes food to not be fully digested, so not all of the nutrients can be absorbed. The trapped enzymes can also damage the pancreas, which can lead to diabetes. Male CF sufferers can be infertile due to an absence of or malfunctioning vas deferens, meaning sperm leaving the testes is blocked or reduced. In females, the cervix can become blocked by a mucus plug, which prevents sperm reaching the egg. Cystic Fibrosis is one of the most common hereditary disorders, with approximately 1 in 25 Europeans carrying the faulty gene. The life expectancy for a sufferer has increased from 5 to 31 years of age in the last 43 years, and scientists are continually getting closer to finding a cure through gene therapy and drugs. ...read more.

The above preview is unformatted text

This student written piece of work is one of many that can be found in our AS and A Level Genetics, Evolution & Biodiversity section.

Found what you're looking for?

  • Start learning 29% faster today
  • 150,000+ documents available
  • Just £6.99 a month

Here's what a star student thought of this essay

4 star(s)

Response to the question

Good overall essay on cystic fibrosis. Sources used could be set out better with the references being put on a separate page with citations and proper referencing throughout the text to receive a higher level. Good depth of analysis and ...

Read full review

Response to the question

Good overall essay on cystic fibrosis. Sources used could be set out better with the references being put on a separate page with citations and proper referencing throughout the text to receive a higher level. Good depth of analysis and response to the overall topic, but the topic could have been examined a lot further with possible treatments as well as symptoms.

Level of analysis

Good introduction explaining what cystic fibrosis is. Goes on to explore the content with in depth gene analysis which is what I would expect from a well rounded higher level A level candidate, with multiple diagrams included and explained. Goes on to explain possible future improvements in the work on finding a cure, but could explore around the subject to a much higher level of depth. Could also develop their own conclusions as to how the disease may be treated or evaluate treatments that are available for the condition now rather than only describing symptoms. Does not explore the reasons for infertility in the males which could be another possible route to explore to increase the depth of analysis showed by the candidate. Terms are as expected for this level scientifically.

Quality of writing

One or two extra spaces between words, probably due to typing error and then lack of proofreading the work. Spelling and punctuation are accurate, and the grammar is mainly accurate.


Did you find this review helpful? Join our team of reviewers and help other students learn

Reviewed by skatealexia 27/03/2012

Read less
Not the one? Search for your essay title...
  • Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

See related essaysSee related essays

Related AS and A Level Genetics, Evolution & Biodiversity essays

  1. Marked by a teacher

    Revision notes - origins of life on Earth, chemistry of life

    5 star(s)

    from volcanic eruptions into food 8.4.4 The study of present-day organisms increases our understanding of past organisms and environments 8.4.4.1 Explain the need for scientists to classify organisms * Classification is not a scientific fact or theory. It is human's attempt to order life on earth in such a way as to make sense of it.

  2. Marked by a teacher

    An Investigation into the Mitotic Nuclear Division of Allium Sativum Root Tip Cells, and ...

    5 star(s)

    their respective organism; the root tip cells of the allium are meristematic in nature; a characteristic that is analogous to stem cells in animals, as both are undifferentiated (or totiopotent/pluripotent, to use the correct biological vocabulary). It is for these suggested reasons that there should be a minimal amount of

  1. Marked by a teacher

    MENTAL HEALTH

    4 star(s)

    talking about three types and possible causes of three different mental-health illnesses and associated mental-health needs. Description of Bipolar Disorder Bipolar disorder can be also commonly known as 'manic depression', it is a condition that affects your moods, which can swing from one extreme to another.

  2. Marked by a teacher

    Nature vs. Nurture - And its affect on intelligence, personality, and behavior

    4 star(s)

    One's genes designate a person's gender. This means that the natural aspect determines gender. Analyzing the American society, different roles begin to emerge. The sex of a person contributes greatly to how one's personality and behavior develops. An example of this would be a teacher. An analysis showed that the majority of the teachers in the United States are female.

  1. Marked by a teacher

    Research Project - Could stems cells provide a cure for diabetes?

    4 star(s)

    This means that there is not much harm that can be an outcome of the treatment to the patient. Stem cells are the best carrier of immunotherapy and gene therapy. [13] This means that the treatment provides immunity to the disease by enhancing the immune response in the body.

  2. Marked by a teacher

    Should Gene therapy be allowed to prevent cystic fibrosis?

    3 star(s)

    * If the candidate was being treated for a single gene, this would be benefits when it is being treated with gene therapy, whereas more common diseases, like heart disease, arthritis, diabetes and Alzheimer's disease, are cause by multiple effects on a variety of genes.

  1. The Biology of Autistic Spectrum Disorder and the Social Implications

    used as a preservative in vaccines and that was phased out after the link between the two was made. However, it is also said that before the 1980s, one in 2,500 children was diagnosed with the developmental disability autism and now that figure is suggested to be close to one in 250.

  2. Gm foods and Gene therapy

    Any society, which wishes to apply genetic engineering to something as fundamental as food, is required equally to take account of what Max Weber noted about a century ago. GM foods just have a future in OECD states if it accords with individual's fundamental values, although this is not, at present, the case in UK.

  • Over 160,000 pieces
    of student written work
  • Annotated by
    experienced teachers
  • Ideas and feedback to
    improve your own work