Cystic Fibrosis

Definition

Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, leading to the production of thick and sticky mucus that can clog the lungs and obstruct the pancreas. This condition affects various organs, particularly the respiratory and digestive systems, disrupting normal function and leading to serious health complications. Understanding cystic fibrosis requires knowledge of how protein misfolding and instability contribute to the disease's pathology.

5 Must Know Facts For Your Next Test

1. Cystic fibrosis is caused by mutations in the CFTR gene located on chromosome 7, with the most common mutation being F508del.
2. The improper folding and instability of CFTR protein result in its degradation before it reaches the cell surface, leading to insufficient chloride ion transport.
3. Patients with cystic fibrosis often experience recurrent lung infections due to mucus buildup, which creates an environment for bacteria to thrive.
4. The condition also impacts the pancreas by obstructing pancreatic ducts, leading to malabsorption of nutrients and poor growth in affected individuals.
5. Lifespan for individuals with cystic fibrosis has increased significantly with advancements in treatment strategies, but they still face chronic health challenges.

Review Questions

• How does the mutation in the CFTR gene lead to the symptoms observed in cystic fibrosis?
  • The mutation in the CFTR gene disrupts the production of the CFTR protein, which is responsible for regulating chloride ions across cell membranes. This disruption results in protein misfolding and instability, causing the protein to be degraded rather than functioning properly at the cell surface. As a result, thick and sticky mucus builds up in various organs, particularly the lungs and pancreas, leading to respiratory issues and digestive problems characteristic of cystic fibrosis.
• What role does protein stability play in the development of cystic fibrosis, particularly regarding CFTR function?
  • Protein stability is crucial for CFTR function since proper folding allows it to reach the cell membrane where it can facilitate chloride ion transport. In cystic fibrosis, mutations cause the CFTR protein to misfold and become unstable, preventing it from functioning effectively. This instability not only affects chloride transport but also leads to a cascade of physiological disruptions that contribute to the disease's symptoms, such as mucus buildup and impaired organ function.
• Evaluate the impact of advancements in therapeutic approaches for cystic fibrosis on patient outcomes and quality of life.
  • Advancements in therapeutic approaches for cystic fibrosis, including modulators that improve CFTR protein function and targeted therapies for managing lung infections, have significantly improved patient outcomes. These treatments address the underlying cause of the disease by enhancing protein stability and function, leading to better lung function and reduced hospitalizations. Consequently, patients experience improved quality of life and increased life expectancy, highlighting the importance of continued research into effective treatments for this complex genetic disorder.

Related terms

CFTR Protein: Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that functions as a channel for chloride ions across epithelial cell membranes, crucial for maintaining fluid balance.

Protein Misfolding: The process by which proteins do not fold into their correct three-dimensional structure, leading to loss of function and potentially resulting in diseases like cystic fibrosis.

Lung Infection: A common complication of cystic fibrosis where thick mucus traps bacteria in the lungs, leading to chronic infections and inflammation.