PKU Webquest

PHENYLKETONURIA: A METABOLIC DISORDER

Metabolic disorders are genetic diseases that affect the body's ability to perform its normal chemical reactions. Many metabolic disorders result from enzyme defects. Recall that a metabolic pathway is a stepwise sequence of enzyme-mediated reactions. If one enzyme in a metabolic pathway is defective, that enzyme's substrate may accumulate and the pathway may not be completed. This may result in a buildup of harmful substances or a shortage of required molecules.

Activity

In this exercise, you will use the Web links below to gather information about the metabolic disorder phenylketonuria (PKU). Use what you learn to answer the questions at the bottom of the page.


Your Genes, Your Health: Phenylketonuria
http://www.ygyh.org

NSPKU Home Page
http://www.nspku.org

Texas Department of Health Genetic Disorders
http://www.dshs.state.tx.us/newborn

Phenylketonuria - The Genetics
http://willroberts.com/pku/


Questions

1. What enzyme is most commonly defective in people with phenylketonuria?
The most common defective enzyme is called phenylalanine hydroxylase which is needed to break down essential amino acid callednphenylalanine into a different amino acid called tyrosine.

2. What reaction does this enzyme catalyze? (What is the substrate and what product is produced?) This reaction causes a build up of high body levels called hyperphenylalaninaemia  which can damage the brain.
3. Describe the symptoms of phenylketonuria.
The symptoms of phenylketonuria vary from mild to very serious:
Seizures, delayed development, behavioral problems, and psychiatric disorders are also common.
Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.
Some cases aslo cause brain damage to the child.

4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?
Phenylalanine is found in proteins of the food that we eat, and reacts badly with the PKU because the hindered enzyme is one of a metabolic nature.


5. How common is phenylketonuria? How is it treated?
PKU is not very common. Rates in Asian and Caucasians are rare but come up more in Irish and Turkish heritage families. It is treatable and is treated by a low protein diet that is carried out throughout the patient’s lifetime.

The Kid that had CF

After watching the video I really think that the school was being really unfair with Coleman. He shouldn't be segregated for having that disease. You can see Coleman is really upset with what these school did. He is just a young boy who is trying t fit into a new school. I moved to a new school and I know how hard it was to make friends even when I didn't have a disease. For the school to say he can't go to school there is wrong. In the video when the Doctor and Layer talked about how wrong the school was on both sides and how the child can't infect anybody if he is not in contact with somebody. We were all thought to cover our mouth when we cough and to sneeze into a kleenex or to sneeze into our arm/ shirt. This video shows how crewel people are to others because of a LIFE THREATENING  DISEASE. Everyone should watch this video and learn how bad CF really is and how it could take such a precious life with it.

Here is the video to watch.  Please comment on what you think of this?

   

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Cystic Fibrosis

CYSTIC FIBROSIS - A DISORDER OF MEMBRANE TRANSPORT

A great variety of proteins have roles in moving molecules and ions across cell membranes. Passive transport proteins permit certain substances to diffuse down concentration gradients by moving through the protein's interior. Active transport proteins use ATP energy to pump substances across the membrane against their concentration gradients. To investigate the importance of transport proteins, we will consider the effects of cystic fibrosis, a genetic disorder in which there is a defect in a transport protein..

Activity

Part 1.

In this part of the activity you will visit the Cystic Fibrosis Foundation’s web site to learn about the causes and symptoms of cystic fibrosis.

Use your browser to go to http://www.cff.org/home/

Use the information provided in the “About cystic fibrosis” section to answer the following questions:

1. What are the signs and symptoms of cystic fibrosis?
The signs of cystic fibrosis are frequent coughing that brings up phlegm, Dehydration, Salty tasting skin.
2. How common is this disorder?
About 1,00 new cases of this disorder are diagnosed each year. Also about 1 in every 25 people can get this disorder.
3. How is cystic fibrosis diagnosed?
Cystic fibrosis is diagnosed by chest X-rays or Lung Function Tests.
4. How is cystic fibrosis inherited? Does everyone who has a mutant gene for the protein have cystic fibrosis?
Cystic fibrosis is inherited by if the mom and dad have it and there is 25% that the child what will have CF and 50% chance that the child had the gene but has no symptoms and 25% that the child does not have the gene and no symptoms.
Part 2.

In this part of the activity you will read an article to learn more about cystic fibrosis.

Use your browser to go to:

http://resources.schoolscience.co.uk/MRC/3/page3.html

Use the information in this article to answer the following questions:

1. Explain the normal function of the protein that is defective in cystic fibrosis.

Its normal function is to control the flow of Chloride ions from the cell. In the lining cell of a person with CF, the vital Chloride channel is blocked.

2. What happens to this protein in CF patients and what are the consequences for the health of these individuals?

Its normal function is to control the flow of Chloride ions from the cell. In the lining cell of a person with CF, the vital Chloride channel is blocked.

Part 3.

In this part of the activity you will read about how cystic fibrosis is treated.

Use your browser to go to:

http://www.mayoclinic.com/health/cystic-fibrosis/DS00287

Use the information in the different sections of the article to answer the following questions:

1. Explain at least 3 treatments for the symptoms of cystic fibrosis.

1: Medications: some are antibiotics, mucus thinning drugs or bromchodilators

2:Chest Physical Therapy: chest clapper, inflatable vest, breathing devices

3: Pulmonary Rehabilitation: Breathing strategies, Exercise training, Nutritional counseling

2. Discuss at least 3 ways for parents to help their children who have cystic fibrosis.

One way is that the parents could try all the "options" that are available to help CF. Another is supporting the child that has CF. A third way is making sure the child has plenty fluids and exercise. The parents can be a big help with exercise because they could play a game of basketball and just help the child. It also shows the child that the parent is willing to help with this decease.

My Microscope Test!

Microscope.... That strange looking thing in your science class room. Many people use it and don't understand how to use it properly and safely. Currently in Biology we have been playing around with Microscopes and how to use them and what the purpose they are used for. So this is a little check list/ picture on how to use one of these funky looking things!

This is a picture of a microscope and what the parts are on the microscope.











The first thing you need to know about the microscope is you nedd to turn on the light to see the slider. Then you place your test slide under the lowest objective and focus the objective. If youi still cant see it you can move the objective with the revolving nosepiece. Also you can rotate the fine focus to view the slide much more clearly. These steps also go for all objectives. The microscope is pretty easy to understand.



Here is a cool glogster I found!!! This can help you understand the microscope.

The lab I created:)

Osmosis and Diffusion seems like complicated terms but in reality they are both very simple to understand. With this lab I had to create the "lab". This shows how osmosis and diffusion happened between the substances I mixed up. With this lab the tube with the water inside it swelled but creating a heavier weight within the 24 hours but when I had the chance to weigh the tube it weighed less because it was trading places with the corn syrup. Thus the tube filled with corn syrup and the and the glass filled with water. The same process happened with the tube filled with corn syrup and 24 hours later the    two flipped. I like to think of these processes as an algebra equation to get the correct answer you have to flip numbers or letters to get them to the opposite sides. The photos below show more of detail of what happened.

This is my information in graph form.  This graph shows the amount of liquid measured with a scale.

                     Measured in Grams

This graph shows the change in weight from the original weight and the change in weight to the next day. Through out this lab and the 24 hour wait I noticed that the bags and substances in the bag flip. The Water in cup and Corn syrup tube is now Water in bag and Corn syrup in the cup. This change also happened with the Corn syrup in tube and Water in cup. Over time tube expands because of water rushing into the tube and the Corn syrup traveling into the bag. This diagram will give you a better visual.

And just for fun... does anybody remember Osmosis Jones??? Here is the video trailer :)

Diffusion and Osmosis Lab

Diffusion and Osmosis are important to living organisms because water and certain solutes move in and out of cells by there two processes. However, molecules only move from region of high concentration to low concentration during these processes. Cells often need to absorb molecules from regions in which the concentration of the molecules may be lower than the concentration already inside the cell. The absorption of glucose from blood frequently occurs under these circumstances. Cells use the process of active transport to move substances through the cell membrane against a concentration gradient. Active transport involves proteins in the cell membrane against a concentration gradient. Active transport involves proteins in the cell membrane and energy derived from ATP. Diffusion of small molecules through a selectively permeable membrane (Tube). Tubing is made of a membrane containing tiny pores. The size of the minute pores in the tube determines the size of molecules that can pass through. Small solute molecules and water molecules can move through freely, but larger molecules will pass through more slowly, or perhaps not at all. The movement of a solute through a selectively permeable membrane is called dialysis.


This table will help you understand more of what went went on in the process.

Dialysis Tubing with carbohydrate solution and Water-Iodine Soultion

During this lab i filled a cup with a carbohydrate solution and a dialysis tube of water and iodine.
After 30 minutes of the tube sitting in the the water you could see a change in color and touch.

As you can see the color of the bag is a purple color that is because the water-iodine solution is starting to diffuse into the into the carb solution in the tube and the carb solution is starting to diffuse into the water-iodine solution.






After 24 hours of this lab the color changed completely and the mixtures were different.  We used carbohydrate testers and we found that both the tube and cup had traces of carbohydrate s inside them. As you can see the colors changed.

 

 

 

After 24 hours and I noticed the substance at the bottom i shook the tube and the purple substance mixed all together to create this.

These are my result questions:

1.) How would you explain the results you obtained? which substances(s) are entering the bag and which are leaving the bag? Support your answer with experimental evidence.

The results I obtained from this experiment is the starch water is still in the bag but the Iodine comes through the bag changing color in the cup.

2.) What evidence could have been collected to show quantitatively that water diffused in to the dialysis bag?

The iodine water is clear and the bag is purple. Also we tested both substances and the cup had carbohydrate traces in the water.

3.) What results would you expect if the experiment stated with glucose and IKI (iodine) solution inside the bag and only starch and water outside? Why?

It would be reversed the cup would be purple and the bag would be clear.