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Transcript of Cystic Fibrosis
AP Biology - Seese
-a mutation in a gene on chromosome 7 changes a protein called CFTR that regulates the movement of salt in and out of cells
-a recessive gene inherited from a child's parents
-If children inherit only one copy of the gene, they will be carriers and possibly pass the gene to their own children.
A persistent cough that produces thick spit and mucus
A decreased ability to exercise
Repeated lung infections
Inflamed nasal passages or a stuffy nose
Cystic fibrosis is a genetic life-threatening disorder that causes severe damage to the lungs and digestive system.
affects the cells that produce mucus, sweat and digestive juices, causing secretions to become thick and sticky.
secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
most common in white people of Northern European ancestry.
Cell Signaling Pathway
The CFTR protein is on the surface of cells lining the lungs, intestine, pancreas, other organs. When activated by camp, a signaling molecule, it opens to release chloride from the inside of the cell. Water follows the chloride out of the cell. In cystic fibrosis, cftr is non-functional, so the mucus at the surface of the epithelial cell gets dehydrated and thick (blockage).
Healthy lungs have a normal amount of mucus
Those without Cystic have parents without the carrier gene
Regular CFTR gene codes for proteins that serve as a chloride ion channel
This channel serves as a way to regulate the movement of sodium ions and movement of water.
This flow allows for the protection of the cell membrane and thinning of mucus
Cystic Fibrosis is caused by a mutation on DNA (Chromosomal)
1500+ possible mutations can cause Cystic Fibrosis
Commonly, the addition or substitution of bases on the AA sequence is cause of CF
Mutation occurs on Chromosome 7
mutated gene cannot serve as a channel to transport chloride ions
the ratio of sodium ions (high) to chloride ions (low) creates an imbalance in the cell
The more sodium ions that move into the cell, the more mucus that dries up in the cell
When the mucus becomes to thick the organs are prone to infections
Signaling of CF
Research for treatment of CF has been put into a drug development - Ivacaftor which has shown significant improvement in lung function.
Gene therapy methods is constantly being researched by CF foundation
Small molecules (form of drug) are under development to compensate the mutations occurred by CFTR