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Cystic Fibrosis

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Genetic Engineering – Cystic Fibrosis

Introduction…

        For my assignment, I have been assigned to investigate on what genetic engineering does to help people with genetic disorders. I have chosen a genetic disorder which now can be treated using today’s technology. My chosen genetic disorder is cystic fibrosis as it is one of the common treated disease and easy to research. I will have to research and discuss the following aspects of my chosen genetic disorder…

  • What it is
  • Symptoms
  • What causes it
  • How it is treated
  • Long term affects and other information

Before we must discuss all of this relevant information, I must explain the basic terms of what genetic engineering is or you may not understand the information given about cystic fibrosis.

To do this I must explain the following…

  • What it is
  • The methods of genetic engineering
  • Limitations of genetic engineering
  • Long term affects done by genetic engineering

What Is Genetic Engineering?

        Genetic engineering is an expensive procedure that takes time, patience and a lot of money. By using genetic engineering methods, we can adapt an organism by changing its DNA (Deoxyribonucleic Acid) strand by either adding in genes into the organism that we want the organism to have, or we can remove genes from an organism that we don’t want them to have.

Medical research today is using more genetic engineering methods than ever before. More money has been given to genetic engineering research as they propose we can help most people with genetic medical disorders.

Genetic engineering consists of using two types of DNA from two different organisms. You take the DNA strand you want from an organism that has it, and then attach it to a plasmid from the organism you want to have the new gene. There is a huge process and it is succeeded by chance as the new gene and the plasmid have to join and we cannot help them join, just mix them about and hope one end attaches to another.

On the next few pages, they describe the main processes of genetic engineering in more depth…image00.jpg

How Is The Process Done?

        Using DNA from a living animal/species/individual (I.E. human) to change another organisms DNA, for example…

Step By Step Method For Genetic Engineering (Penicillin)…

  1. Identify the gene you want to produce penicillin (penicillin gene).
  2. Take a sample of DNA from the original organism and copy it several thousand times.
  3. Cut out the part of the DNA strand which holds the penicillin gene using a ‘Restriction Endonuclease’ instrument, by doing this, the ends will become sticky and help to form the new plasmid which holds the new penicillin gene. This is normally called having “sticky ends”.
  4. Take a plasmid from the E-coli bacterium and copy it several thousand times.
  5. Cut the plasmids using the restriction endonuclease instruments, by doing this, the ends will become sticky to help the new gene combine with the plasmid.
  6. Mix the plasmids and the penicillin genes together and hope they join up end to end revealing a new plasmid with the penicillin gene. This part is all but chance.
  7. Find the plasmids which have joined onto the genes properly and remove them from the rest of the experiment.
  8. Put the new plasmids in an enzyme called ‘Ligase’ that will seal the joining points between the gene and the original plasmid.
  9. With the finished plasmids that have the new penicillin gene, put the plasmid back into the original organism by the following methods…
  • Microinjection
  • Transportation
  • Chemical Means
  1. Let the e-coli bacterium reproduce and create more of them with this new penicillin gene. By doing this, the e-coli bacterium will start to produce more penicillin.
  2. Kill off the bacterium which does not produce penicillin.
  3. Harvest the penicillin and use for medical reasons.

Limitations Of Genetic Engineering…

  • Can’t inject the new DNA into every cell
  • Might use the wrong part of DNA from the other organism by cutting the wrong part of the DNA strand
  • May cause a mutation in the cell
  • Takes time for cells to reproduce and affect the body to see results
  • Cost a lot of money for the staff and technology as you need specialised staff who know what they are doing and know how o use the expensive equipment. The equipment will be expensive to see and handle things so small
  • Don’t know all the disease which can be cured by genetic engineering
  • May affect the persons gene therapy

Long Term Affects Done By Genetic Engineering (Good And Bad)…

GOOD

BAD

  • Can cause the body to eliminate a genetic disease which the organism has.
  • Help towards research into defeating diseases.
  • Help save lives and make them suffer less by increasing there life expectancy.
  • Get more information about genetic diseases.
  • Increase the success rate of people recovering from genetic disorders/diseases.
  • Takes a lot of time to notice the changes but it may not work anyway.
  • May cause a mutation in the cells which can be fatal later in life as the body may not be able to function properly. But the person willing to do the treatment knew of the risks.
  • The mutation can be passed on sexually if the meiosis procedure has these cells. But the foetus may not develop or live long leading to miscarriage.
  • Do not know what disease we can cure using this process
  • May use the wrong part of DNA and cause the cell to do something else we didn’t want it to do.

What Is Cystic Fibrosis?

        Cystic fibrosis is a genetic disease which can be passed on through offspring. Like the same way you can have your dad’s nose or your mum’s eyes. Cystic fibrosis is a genetic disease that can be very serious and fatal. The disease can affect most parts of your body. You can be either a carrier which you don’t suffer from the disease but you can pass it on genetically (through offspring) or you can suffer from it and pass it on genetically. This is how it works through a simple diagram…

image01.png

        As you can see in this diagram, if we had two carriers and they want to have children these are the possible out comes when having four kids. There is a 50% chance of having the kids becoming a carrier of cystic fibrosis, a 25% chance of a child becoming unaffected and 25% chance of the child having cystic fibrosis and having a really bad start to life. In a ratio it would be a 2:1:1. The carriers will not suffer from cystic fibrosis recessive but if the two alleles become the same for cystic fibrosis then they will suffer from it. If you put this diagram in the punnet square, you can now see why you may get what the out comes may be as shown above in the diagram. Below is what the diagram is interpreted into a punnet square…

Mother (Carrier)

Father (Carrier)

C

c

c

Cc

cc

C

CC

Cc

On the next page shall be some more punnet squares but with different scenarios. When explaining they will be explaining as like before a show what possible outcome may be achieved when wanting kids…

image02.jpgimage02.jpgimage02.jpg

Mother (Unaffected)

Father (Carrier)

c

c

c

cc

cc

C

Cc

Cc

Mother (Affected)

Father(Affected)

C

C

C

CC

CC

C

CC

CC

Mother (Affected)

Father (Carrier)

C

C

c

Cc

Cc

C

CC

CC

Mother (Unaffected)

Father (Affected)

c

c

C

Cc

Cc

C

Cc

Cc

Mother (Unaffected)

Father(Unaffected)

c

c

c

cc

cc

c

cc

cc

image03.jpg

Diagram 1... If a mother who is affected with cystic fibrosis wants to have children with a carrier of cystic fibrosis, these are the possible outcomes for the offspring. There is a 50% chance of the offspring actually suffering with cystic fibrosis but a 50% chance of the child becoming a carrier of cystic fibrosis. There is a 0% chance of the offspring becoming unaffected. In ration terms, it is 50:50 (1:1) of the child having cystic fibrosis.

Diagram 2… If an unaffected mother wants to have children with a person who is an unaffected carrier of cystic fibrosis, these are the possible outcomes for the offspring. There is a 50% chance of the offspring being unaffected but there is a 50% chance of the offspring becoming a carrier. Although there is a 0% chance of the offspring actually having cystic fibrosis. In ratio terms there is a 50:50 (1:1) of the child becoming unaffected and not have the disease.

Diagram 3… If an unaffected mother wants to have children with an affected person with cystic fibrosis, these are the possible offspring outcomes. There is a 100% chance of all the offspring becoming a carrier of cystic fibrosis. Therefore there is a 0%chance of the children (offspring) either being unaffected or having cystic fibrosis.

Diagram 4… If an affected mother with cystic fibrosis wants to have children with an affected father with cystic fibrosis, these are the possible outcomes. All 100% of the children (offspring) will suffer from cystic fibrosis. There fore there is a 0% chance of the offspring becoming a cystic fibrosis carrier or becoming unaffected.

Diagram 5… If an unaffected mother wants children with an unaffected father, all the children will be normal and not carry/suffer from cystic fibrosis.

What Causes Cystic Fibrosis?

        Cystic fibrosis is a number of symptoms. The number seven chromosome in the body is abnormal and causes the symptoms. As like above, this can be passed on genetically. It takes either two people suffering with cystic fibrosis (100% chance of the child having cystic fibrosis) or two carriers (25%chance of the child having cystic fibrosis) to make a child who then may have cystic fibrosis from the start of their lives.

Symptoms…

Cystic fibrosis can affect multiple parts of the body to cause the organism to suffer quite dramatically. The main areas in the body that the disease affects are mainly the lungs and the digestive system.  Here are the main, noticeable symptoms of having cystic fibrosis…

  • Small growths in the nose
  • Enlarged liver and spleen
  • Diabetes type 2
  • Infertility in men, because the tube that carries sperm is abnormal and may not develop big enough or not develop at all
  • Fertility problems in women due to thicker mucus making fertilisation more difficult
  • Born children with cystic fibrosis do not develop slower than normal
  • Young children do not put weight on as fast as normal
  • Enzymes in the body do not work properly in the body but mainly in the digestive system. That is why not enough nutrients is taken into the body and thee body does not develop as fast
  • Lung infections
  • Asthma
  • Coughing a lot of mucus up
  • Liver disease
  • Many psychological affects
  • CYSTIC FIBROSIS IS CAUSED BY THE SEVENTH CHROMOSOME BEING ABNORMAL

Treatments…

Cystic fibrosis can be treated to ease the pain and make life expectancy longer. To treat all of the above you may have to…

  • Take oral tablets or having inhalers to combat lung infections
  • Use an inhaler to combat asthma
  • Take corticosteroid tablets to increase several hormones that are created in the adrenal glands
  • Vitamin A and D tablets as some enzymes or there are not enough enzymes that do not take these vitamins from food
  • Medicines to relive you of constipation and to replace the body with more of them digestive enzymes
  • Take insulin for their diabetes as their pancreas won’t be working properly
  • Injections to help combat liver disease
  • Breathe pure oxygen to help with their breathing
  • IVF to help combat fertility problems
  • Counselling to help with the mental issues of the sufferer
  • Go to a special doctor to under go genetic engineering to remove the cystic fibrosis gene (abnormal 7th chromosome) from the sufferer and the carriers and replace it with a fully working 7th chromosome

Long Term Affects Of Genetic Engineering On Cystic Fibrosis…

        There is no 100% cure for cystic fibrosis as we have only started to scratch the surface of genetic research. We are more or less trying ‘try and error’ procedure as in this type of work at the moment is all about chance. We have found new enzymes that are used for our new piece of technology, the ‘Restriction Endonuclease’ as this uses different enzymes to cut the DNA in different places, depending on the type of enzyme you use. The restriction Endonuclease is very new to our world and that still need improving to be more accurate at cutting DNA and developing new enzymes to do so. We need technology that could help us join the plasmids and the new genes together easier as that could improve our cure ratings for cystic fibrosis. There is no way of finding the perfect new cell that will cure this and may always have bugs in it but it is another small step in finding the cure. All we can do now is comfort them with our present drugs and hope they can live a healthy life. Even if we do find the cure, it will take time to notice it working in a person as those cells which have been geneticcly modified have to multiply. One multiplied enough on the tissues it is associated with, ten we may see some improvement. Only time will tell.

image04.jpg

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