Cystic Fibrosis Bibliography
Cystic Fibrosis Questions




Cystic Fibrosis

By: Lauren Nicolosi, Kelly Loftus, Maggie Lettire, Emily Bjerke, & Trisha Ilumin

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WHAT TYPE OF MUTATION OCCURS..


Cystic Fibrosis is caused by mutation in Chromosome 7. CFTR, Cystic Fibrosis Transmembrane Conductance Regulator, is what is affected by the mutation. A CFTR gene provides instructions for creating a channel that transports chloride ions, which are negatively charged particles, in and out of the cell. The flow of these negatively charged particles control the movement of water throughout tissues which is key to being able to create thin, easy flowing mucus. The CFTR protein also regulates the function of other channels that produce positively charged ions that are called sodium ions across cell membranes. These sodium ion channels are crucial for the normal function of organs including the lungs and pancreas. When there are disruptions in the CFTR gene, the chloride channels can't regulate the production of chloride ions and water across the cell membrane, and an imbalance of sodium ions also occurs causing the cells that line the walls of the lungs, pancreas, and and other organs to produce a mucus that is extremely thick and sticky. Because of the thickness of this mucus, it clogs up the airways causing the person affected to show common signs of Cystic Fibrosis. 70% of mutations result from the deletion of the three base pairs, which make the amino acid Phenylaline, in CFTR's nucleotide sequence. Because Phenylaline is located at position 508 in the protein, the mutation is called Delta F508. The deletion of Delta F508 is the most common cause of Cystic Fibrosis. With normal CFTR, once the protein has been synthesized it is sent to the Endoplasmic Reticulum and Golgi Apparatus so that it can be additionally looked over and processed before it is finally transferred into the cell membrane. When the Endoplasmic Reticulum notices the Delta F508 mutation, the Endoplasmic Reticulum sees that the protein is made incorrectly, thus the protein is marked as a defective protein and never allowed into the cell membrane.




Figure 3: CFTR Mutation
Figure 3: CFTR Mutation
Chromosome 7
Chromosome 7

Figure 3: The deltaF508 deletion is the most common cause of cystic fibrosis.
The isoleucine (Ile) at amino acid position 507 remains unchanged because
both ATC and ATT code for isoleucine






HOW IT IS INHERITED...

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Cystic Fibrosis is an inherited chronic disease. It is inherited when two parents both pass down a malfunctioning copy of the gene. People with cystic fibrosis have two copies of the mutated gene. A carrier has one functioning gene and one malfunctioning gene. The functioning gene overrules the malfunctioning gene and the person does not have cystic fibrosis; they are just a carrier. In other words, since a child inherits genes from both parents, there is a 50% chance that the child will have that trait. And there is a 25% chance the child will have two normal genes, and a 25% chance the child will develop Cystic Fibrosis. The gene that is affected is called CTFR, which means, Cystic Fibrosis Transmembrane Conductance Regulator. It lies in the middle of chromosome 7 and encodes the protein CTFR. The majority of people affected by cystic fibrosis are European, but it is very rare to find cystic fibrosis in asians.




CHARACTERISTICS/SYMPTOMS..

Cystic Fibrosis has common effects that include continuous damage to the respiratory system and chronic problems with the digestive system. In people with cystic fibrosis, the body produces mucus that is unusually thick and sticky. This mucus can block air sacs or the alveoli in the lungs, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause continuous coughing, wheezing, and inflammation. Over time, mucus buildup and infections develop permanent lung damage. This includes scarring of the tissue (fibrosis) and cysts in the lungs, hence the name “Cystic Fibrosis”. However, it not only occurs within the lungs but also in the digestive system. Thick, sticky mucus interferes with the operation of the pancreas, which is what creates enzymes that help digest food. If mucus blocks the pipes of the pancreas, stopping these enzymes from reaching the intestines to assist digestion.

Cystic Fibrosis consists of many different symptoms such as:

  1. salty-tasting skin or sweat

  2. persistent coughing

  3. frequent lung infections

  4. wheezing or shortness of breath

  5. poor growth/weight gain

  6. diarrhea

  7. malnutrition

  8. weight loss

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Someone with Cystic Fibrosis normally:

  • Drinks water a lot & has tissue at hand all the time

  • Have good hygiene

  • Pancreatic enzyme to help digest food (taken with all meals &snacks)

  • Should not affect attitude or behavior

  • Leaves classroom a lot

  • Participate in Physical Activity

  • Sweat more and have very salty sweat

  • Needs water

  • Regularly visits clinic & has hospitalization

  • Problems with college...

  • unrecognizable


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TREATMENTS..

  • There is no cure for cystic fibrosis, however treatments may improve it.

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Nebulizer: turns medication into a mist for children that have cystic fibrosis to breathe into.
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Chest Physical Therapy (CPT): Includes techniques of postural drainage: placing body in positions that allow mucus to drain, percussion: clearing mucus out of airways by using a vibrating vest, and coughing.

Nutritional Treatment for Cystic Fibrosis..

Nutritional Therapy

a well-balanced, high-calorie diet that is low in fat and high in protein.


Extra Facts and Statistics!

Some children with cystic fibrosis cannot pronounce their disease so instead they call it 65 Roses. This term was created by the son of Mary Weiss. She was a volunteer with the Cystic Fibrosis foundation because her four year old son had been diagnosed with CF. One day he told her that he knew who she was working for, because she was always making calls from home to people asking for donations to the foundation. She replied “What am I working for?”, He then told her she was working for 65 Roses. The rose is now a symbol of the Cystic Fibrosis Foundation, as well as being the ancient symbol of love.

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Statistics..

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

  • Happens in 1/3500 births

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

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

  • The average age that people with CF live to be is in the mid-30s. This is a great improvement from 1980 when the expectancy was only around 14 years.

  • The Cystic Fibrosis Foundation has 115 care centers nationwide where people with CF can receive treatment from the experts and access resources. These centers have doctors available for both adults and children.

  • Patients can volunteer for clinical trials of new medicines.