Cystic Fibrosis Research

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?

very salty-tasting skin;

persistent coughing, at times with phlegm;

frequent lung infections;

wheezing or shortness of breath;

poor growth/weight gain in spite of a good appetite; and

frequent greasy, bulky stools or difficulty in bowel movements.

2. How common is this disorder?

About 1,000 new cases of cystic fibrosis are diagnosed each year.

More than 70% of patients are diagnosed by age two.

More than 45% of the CF patient population is age 18 or older.

The predicted median age of survival for a person with CF is in the late 30s.

3. How is cystic fibrosis diagnosed?
Most people are diagnosed as babies, or before the age of 2 through screening. A sweat test (the more commonly used test) or a genetic test with be performed to determine whether or not it is there.

4. How is cystic fibrosis inherited? Does everyone who has a mutant gene for the protein have cystic fibrosis?

One protein is different for that person. They have inherited two copies of the defective gene. One can have the CF gene, but that does not necessarily mean that they have 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.
This gene will typically show up in the epithelial cells that line the airways of the lungs. There are channels for those cells that allow ions to flow in. This brings the water to the surface and keeps mucus moist. The gene will prevent those from getting moist, leaving them all dried out. This makes it easier for those people to get infections. They need some extra care for that!

2. What happens to this protein in CF patients and what are the consequences for the health of these individuals?
Movement of chloride ions into the mucus are cut off. Sodium ions are allowed to then flow into the cell, allowing it for drying out more. Bad news! That person is then prone to infection.

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.
Medications, chest therapy, organ function tests

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

Healthy eating, exercise, and drinking lots of fluid would be great ways to help support and keep their child healthy!