Cystic Fibrosis Webquest

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.

1. What are the signs and symptoms of cystic fibrosis?

The symptoms of cystic fibrosis are salty tasting skin, greasy stools or difficulty in bowel movements, being short of breath or weeping, a lot of coughing (occasionally with phlegm), poor growth/having a healthy diet and gaining weight, lung infection often.

2. How common is this disorder?

Cystic fibrosis is a common genetic disease within a great amount of the United States population. The disease occurs in 1 in 2,500 to 3,500 newborns. The disorder is seen more in a child that has parents with this disease because they pass the gene onto the children.

3. How is cystic fibrosis diagnosed?

Cystic fibrosis is diagnosed by a blood test is available to help detect cystic fibrosis. The test looks for variations in a gene known to cause the disease, most people have signs of it when they are children, CF is usually diagnosed during childhood. In some cases, symptoms may not appear until young adulthood. The most common way is a sweat test. A sweat test is when an electrode is placed on the skin and absorbs the sweat and then gets tested for chlorine. If the level is 60 mmil/L or above than the person is diagnosed with cystic fibrosis.

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

Cystic fibrosis is inherited through genes. Many people carry the gene but don't always get the disease. To be diagnosed with the disease, you must have two copies of the mutated gene. If one of your parents has the disease you have a 25% chance of carrying it and if both of your parents carry it, you have a 50% of carrying it and a very high chance of being diagnosed with the disease. 

Part 2.

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

Cftr is the protein that is defective in cystic fibrosis and is a membrane channel for chlorine ions. Genetic defects in CFTR brings to an increased concentration of chlorine ions that lead to a greater viscosity of mucus in several mucosae in lungs and pancreas. Water is let in to try to get rid of this mucus which causes it to always be moist.

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

People with CF has proteins that does not work proper. The chlorine channel is blocked and stops the ionic gradient from going to the mucus. The mucus has no way to get released because the water can not be pulled in and it than stiffens in the lungs and becomes prone to bacteria. That is why most people with CF have lung cancer.

Part 3.

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

Three treatments for the symptoms of CF are antibiotics, even though they don't make it disappear, they help. People also use a mucus thinning drugs. They help break the mucus up that way it comes up easier.

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

To help prevent children from CF you can get them immunized. Cystic fibrosis doesn't effect your immune system but it helps you from getting sick and making your cells have to work more on killing off that bacteria. Also when people that have it get sick it causes a lot of complications. A second way to help prevent children from getting CF is to have them drink a lot of fluid that way it helps loosen their mucus. A third way is washing your hands a lot. By washing your hands a lot you can prevent catching an infection. Exercising is a great way to help prevent it. The movement during exercise helps to loosen the mucus in your body.