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 Phenylketonuria is the most common defective enzyme. If high levels of PKU are in the brain it can cause retardation.
2. What reaction does this enzyme catalyze? (What is the substrate and what product is produced?)
3. Describe the symptoms of phenylketonuria.
A child with Pku may have a smaller then normal head epilepsy and mental retardation. Also there skin will have a musky odor lighter color skin and hair
4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?
The build up of the substance causes PKU
5. How common is phenylketonuria? How is it treated?
1 in 10,000 Caucasians some ethnic groups are higher and some ethnic groups are lower. to treat PKU the person must go on a low protein diet for life.
Friday, November 26, 2010
Monday, November 22, 2010
Microscopes
Last week was really fun. We got to use the microscopes. I got really good at focusing the microscope in on what we are looking at. I fought for the microscope camara. So we got some really good pictures of onion cells and cheek cells. we tried to blow up the cells by putting distilled water and shrink the cells using salt water. The cells grew and shrunk a little bit but not by much. The first day we were using them we looked at pond water and you could see little microorganisms moving around. Also I was bleeding so i put a little of my blood on a slide and we looked at that. It was cool you can see all the blood cells. I can't wait to see what we get to look at next through the microscopes. Check out the following video from the microscope camera.
Friday, November 19, 2010
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 symptons of cf of are salty tasting skin, caughing at time with plegm, frequent lung infections, shortness of breath, poor growth/weight gain in spite of good appitite, frequent greasy bulky stools or difficult bowel movements.
2. How common is this disorder?
About 1000 new causes are diagnossed each year.
3. How is cystic fibrosis diagnosed?
A sweat test can be used to diagnose a patient with cf. a high level of salt indicated cf.
4. How is cystic fibrosis inherited? Does everyone who has a mutant gene for the protein have cystic fibrosis?
Cf is inheretied through a mutant protein gene. No there is a 25% chance that they will not inherat cf.
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.
There are channels in these lining cells through which ions can pass. Normally, the movements of ions brings water to the surface of the airway and keeps the mucus moist.
2. What happens to this protein in CF patients and what are the consequences for the health of these individuals?
The defective gene acts to block the channels, which causes the mucus to dry out. It is then difficult for a person to shift the mucus, which then becomes prone to infection by bacteria.
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 “Treatment” and “Self-care” sections to answer the following questions:
1. Explain at least 3 treatments for the symptoms of cystic fibrosis.
One treatment they can give cf patients in medication. there are antibotics, mucus thinning drugs and Bronchodilators. they help stop lung infection, thins the mucus and makes it less sticky, and keeps the airway open.
Another treatment is Therapy. it physically loosens the mucus in the chest.
The last treatment is Surgical. like feeding tubes lung transplants and bowel surgery.
2. Discuss at least 3 ways for parents to help their children who have cystic fibrosis.
Parents should talk openly about there feelings. also the should join a support group for the child and last they should get there kid up and moving get them to loosen the mucus in there chest.
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 symptons of cf of are salty tasting skin, caughing at time with plegm, frequent lung infections, shortness of breath, poor growth/weight gain in spite of good appitite, frequent greasy bulky stools or difficult bowel movements.
2. How common is this disorder?
About 1000 new causes are diagnossed each year.
3. How is cystic fibrosis diagnosed?
A sweat test can be used to diagnose a patient with cf. a high level of salt indicated cf.
4. How is cystic fibrosis inherited? Does everyone who has a mutant gene for the protein have cystic fibrosis?
Cf is inheretied through a mutant protein gene. No there is a 25% chance that they will not inherat cf.
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.
There are channels in these lining cells through which ions can pass. Normally, the movements of ions brings water to the surface of the airway and keeps the mucus moist.
2. What happens to this protein in CF patients and what are the consequences for the health of these individuals?
The defective gene acts to block the channels, which causes the mucus to dry out. It is then difficult for a person to shift the mucus, which then becomes prone to infection by bacteria.
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 “Treatment” and “Self-care” sections to answer the following questions:
1. Explain at least 3 treatments for the symptoms of cystic fibrosis.
One treatment they can give cf patients in medication. there are antibotics, mucus thinning drugs and Bronchodilators. they help stop lung infection, thins the mucus and makes it less sticky, and keeps the airway open.
Another treatment is Therapy. it physically loosens the mucus in the chest.
The last treatment is Surgical. like feeding tubes lung transplants and bowel surgery.
2. Discuss at least 3 ways for parents to help their children who have cystic fibrosis.
Parents should talk openly about there feelings. also the should join a support group for the child and last they should get there kid up and moving get them to loosen the mucus in there chest.
Wednesday, November 17, 2010
Membrane structure poster
This is a picture my group drew of the cell membrane. The cell membrane is made up of phospolipids because they are hydrophobic. Hydrophobic means water fearing. This makes them a good barrier for the inside of the cell. Our model shows three different types of protein, the receptor protein, the transport protein and the recognition protein. The receptor proteins receive information from other cells. The transport protein transports allows molecules to come inside the cell. The recognition protein recognizes lets other cells know what it is and what animal it is from.
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