• 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

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

    5 star(s)

    It is hypothesized that the null hypothesis will be accepted; demonstrating the relationship stated in the initial hypothesis; the statement of the expected phase durations. Correlation between Inter-Species Organisms, i.e. between eukaryotic plant and animal cells. In the process of background research, the approximate timing for each of the stages

  2. Marked by a teacher

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

    5 star(s)

    Procaryotic Heterotrophic * First procaryotes non-membrane bound organisms/nucleus. * Obtained energy from organic molecules that existed in the primitive environment. Procaryotic Autotrophic * No membrane bound organelles/nucleus * Obtained energy through photosynthesis and chemosynthesis * During photosynthesis released O2 � highly toxic * This caused major changes to chem. of earth and atmosphere * O2 reacted with chem.

  1. Marked by a teacher

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

    4 star(s)

    Based on another case study on twins, Michael Bailey of Northwestern University revealed an important finding on identical twins. He found that if one twin is homosexual, "there is a 50% likelihood that the other will be too." (The Personality Genes Pg.

  2. Marked by a teacher

    MENTAL HEALTH

    4 star(s)

    Life events, stress and the strength of our support networks, together with our age and gender combined together can potentially lead to anyone having a mental health problem. Types of mental illness Mental illnesses are different types and degrees of severity.

  1. Marked by a teacher

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

    4 star(s)

    Stem cells play a vital role in our bodies of growth and repair. They are unspecialised cells that have the ability to reproduce themselves and also differentiate into other cells, such as nerve cells, red blood cells or heart muscle cells.

  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. Edexcel Level 3 Extended Project - Should Embyonic Stem Cell Research be applied to ...

    They managed to get the stem cell that becomes blood vessels released through this new drug, and hopes that this could help repair heart damage in the future. They announced they hope to conduct human clinical trials within the next 10 years.

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

    Finding it difficult to make eye contact with other people and understand other people's emotions is another common factor when it comes to social interaction between autistic children and others. Autistic children may also prefer to spend time alone than to be around company.

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