Cystic Fibrosis

Our cells work together every single hour, minute, and second of our lifetimes to make sure that our bodies are functioning properly, and have the necessary parts that allow for the transport of molecules, substances, and other important chemicals. Each cell is surrounded by a cell membrane, one of the most critically important structures in our body, which protects our cells, maintains homeostasis by controlling transport in and out of the cell, and allows for intercellular communication and signalling. The cell membrane is comprised of several parts that each coincide to aid in the functions it is responsible for, including specific transport proteins, receptors, and channels that are designed to enable various substances necessary for

If the proteins or devices within the cell membrane and their activities are blocked, inhibited, or prevented from acting in the ways they are supposed to, it could have an extremely detrimental impact on an organism and the systems that depend on these functions to survive. In the human body, several diseases result from problems in the transport of molecules across the cell membrane, and they have a severe effect on the person affected by them. Cystic fibrosis, for example, is a genetic disease that causes a mutation in a specific protein within the cell membrane that helps move water and salt across this bilayer, and causes a buildup of mucous in the lungs, afflicting with a person’s ability to breathe and other important life functions. Symptoms of this disease can be extremely detrimental, and there are currently no cures for this life threatening disease - only treatments that can mitigate its

Cystic fibrosis is a recessive genetic disease - both parents contribute one affected gene to the child. This disease is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) protein which helps salt and water move across the cell membrane. CFTR controls and regulates chloride transport in the epithelium, particularly in the lungs, but also the liver, intestine, and pancreas, and is important for creating mucus, sweat, and digestive tract fluids. In cystic fibrosis, CFTR’s regulation of these ions is abnormal, disrupting salt and water transport in and out of cells. This leads to a buildup of thick mucus in the lungs and digestive tract due to a defective calcium ion channel. This channel contains a protein that is important to the cell membrane of our lung cells. The calcium-ion channel controls the level of fluids and mucus in our lungs. When this channel mutates and is defective, it causes mucus build-up in the lungs, as cells are not able to secrete enough water. This disease affects how your body makes this mucus and sweat, also afflicting several parts of your body, such as your lungs, digestive system, and pancreas. In a person with cystic fibrosis, the flaw in this gene causes the body’s cell membranes to be unable to regulate the amount of salt and water that enters a cell, resulting in several complications