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Cystic Fibrosis

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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 …show more content…

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 …show more content…

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

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Rationale The cell membrane, also called the plasma membrane is found in all cells and separates the extracellular side of the cell from the cytosolic side (Cell membrane (plasma membrane), 2023). The purpose of the cell membrane is to communicate with the cell’s external environment, to contain the cell’s contents and to control the transport of molecules in and out of the cell. Diffusion is the passive movement of molecules from an area of high to low concentration.

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In my childhood I rarely took notice to the impact that Cystic Fibrosis was leaving on my life. But, by my adolescent years it became almost impossible to ignore that having CF made me unlike my peers. While having CF did have many negative impacts on my life as any life-threatening condition does, I believe that my CF molded me into a strong, independent, intelligent young woman. Compared to many of my peers I find myself to be more ambitious and dedicated to my goals. People have often told me that I am hard on myself when it comes to dreams and goals.

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Delta F508 is the most common mutation in cystic fibrosis. In the Delta F508, “a deletion of one amino acid at position 508 in the CFTR protein results in abnormal channel break downs shortly after it is made, so it never reaches the cell membrane to transport chloride ions” (Genetics Home Reference, 2008). Due to the inability of the cells to release the chloride, the outcome will be an imbalance in salt in the cells. This is what creates the thick and sticky mucus that causes many of the symptoms of cystic

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While evaluating the case study formed about my son, Joshua, it has become difficult to keep looking up and thinking that the school system will adjust in his benefit. It has been rigid to overcome the issues that have gone hand in hand with his Cystic Fibrosis, but I think there has been improvement. My role as already shown is Joshua’s parent. I have found several notions within the case study and John Santrock’s Educational Psychology book that without the knowledge of this class and child psychology I do not think it would be as easy. I appreciate Joshua’s teacher, principal and counselor in hopes of finding better ways for my son.

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4) Upon doing research for this case study on cystic fibrosis I found many informative websites with an abundance of information. The two sites I found with the most information about genetics, symptoms, diagnosis, treatment and prognosis were www.cff.org and https://cysticfibrosisnewstoday.com/. 5) Cystic Fibrosis (CF) is an inherited disease that affects the exocrine glands which are responsible for the production of sweat and mucus. a. The cystic fibrosis decision was based upon genetic testing of both parents revealing that they were both “carriers of CF”, and a recent positive sweat test done on the patient that confirmed the concentration of

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It has been established that the genetic and environmental background play a major role in the development of IPF. Understanding the pathogenesis through genetic linkage analysis can provide an insight into the principal driver of lung scarring and honeycombing, both characteristics of IPF. Consistent with what Kropski et.al, (2013) put forward, there are four genes that cause familial IPF, the inherited variant of IPF, and control the pulmonary linked “surfactant protein C (encoded by SFTPC)” and the “surfactant protein A2 (encoded by SFTPA2)”. The surfactant protein C is known to be hydrophobic in nature and is crucial for normal lung operation and eventually survival of the human being. According to Kropski et.al, (2013), these four genes

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  The cell membrane regulates the deoxyribonucleic acid, enzymes, and it builds a pathways for any reaction such as metabolic.   When waste products are present the cell membrane gets rid of it and the cell membrane allows important things inside .   A great example of what the cell membrane allows in or out is water and oxygen.   Specific molecules are only made to enter the cell which is also called semipermeable.   Molecules can be passed by active transport or either passive transport.

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Although the article was not solely about CF, it discussed how different nonsense DNA-constructs underling the genetic diseases such as cystic fibrosis. I choose this disorder because a child whom I oversaw in my clinical rounds had this disease and I wanted to know more about it and how it would affect his quality of

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These secreted fluids are normally thin and slippery. But in people with cystic fibrosis, a defective gene causes the secretions to become sticky and thick. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.” Cystic fibrosis is a condition that requires a lot of attention, but most people carry on with their normal lives. People with this condition generally only live till their late thirty’s, but that is a huge improvement compared to previous decades.

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Cystic fibrosis (CF) is a genetic disease that affects secretory glands throughout the body, gravely affecting the respiratory system and other systems. A body affected by CF produces unusually thick and sticky mucus that creates infection and accumulates in various pathways (Grossman and Grossman, 2005). This is caused by a defect in a membrane protein called the Cystic Fibrosis Transmembrane Regulator (CFTR), which is due to a mutation in the CFTR gene (Freedman and O’ Sullivan, 2009). The CFTR protein is an ATP-dependent ion channel that allows the movement of chloride ions across epithelial cells, helping to maintain fluid balance via osmosis (Miller et al., 2005). In a mucus-producing cell, the CFTR protein allows chloride ions to enter

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In order for someone to suffer from CF they must inherit a faulty gene from both their mother and father. (Gold, Grimes & Lester, 2000) These gene is responsible for the creation of a protein which controls the movement of salt and water out of a cell. When this gene is faulty thick mucus builds up within different tubes and passages within

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Healthy tissue also is replaced by cysts, or small holes filled with fluids.” CF affects the transport of salt and water across cells. It not only affects the lungs, but it also affects the pancreas and some other organs. Some of its symptoms are salted tasting skin, constant coughing some times with phlegm, etc. Cystic Fibrosis is caused by a damaged gene that a child obtains from both of their parents.

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Indeed, while some people believe that pdf is caused by smokers and only found in elderly people, how idiopathic factors. The severity of symptoms can vary from patient to patient. Some patients can become ill very quickly, and some patients have moderate symptoms that worsen more slowly over months or years. The signs and symptoms of pulmonary fibrosis include dyspnea, (labored breathing; shortness of breath. dyspnea is a sign of serious disease of the airway, lungs, or heart.)

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Cystic fibrosis is the mutation of the CFTR protein in the membrane. This protein allows the chloride ions to come in and out within the membranes. There are many consequences of inheriting cystic fibrosis such as ATP being unable to bind to the host cells to the CFTR protein. The protein doesn’t open and chloride ions move in. the channel is open.

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