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Diseases-Cell Membrane

TRECA Digital Academy

Created on March 13, 2024

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Transcript

Cystic Fibrosis and the Cell Membrane

When molecules can't move through the cell membrane as expected, diseases can occur. Cystic fibrosis is a disorder of the cell membrane.

What is Cystic Fibrosis (CF)?

Cystic fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts, and passageways. Symptoms vary and can include cough, repeated lung infections, inability to gain weight, and fatty stools. Treatments may ease symptoms and reduce complications. Newborn screening helps with early diagnosis.

What Causes Cystic Fibrosis

Genetic Mutation: CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides instructions for making a protein that regulates the movement of salt and water in and out of cells. The mutation results in a defective or missing CFTR protein.

How is the Cell Membrane Involved?

Cell Membrane Function: Cell membranes are like barriers surrounding cells, controlling what substances can enter and leave the cell. Normally, the CFTR protein helps transport chloride ions across the cell membrane, which regulates the flow of water in tissues like the lungs, pancreas, and other organs.Impact of Mutation: In individuals with CF, the defective CFTR protein doesn't function properly and doesn't transport the chloride ions like it should. This leads to the buildup of thick, sticky mucus in various organs, particularly the lungs and pancreas.

Video Animation

This animation shows how mutations in an ion channel protein lead to the genetic disease cystic fibrosis.