MCB 150 podcast

Today's podcast episode of Biology Breakdown discusses mutations and cystic fibrosis. Mutations are heritable changes in genetic material and can have positive or negative effects on organisms. There are different types of mutations, including silent, missense, nonsense, and frameshift mutations. Cystic fibrosis is caused by mutations in the CFTR gene, resulting in the production of a faulty protein that leads to the buildup of thick, sticky mucus in various organs. Symptoms include respiratory and digestive issues. Treatment options include medications, airway clearance techniques, and potentially surgery. While there is no cure, individuals with cystic fibrosis can live full and productive lives. Hello, and welcome back to Biology Breakdown, where we take complex biology concepts and break them down for your better understanding. This podcast is brought to you by Olivia, Zahra, Lucas, and myself, Angelina. Today's date is March 8th, and we're coming to you from the lovely University of Illinois Urbana-Champaign campus. The topic we're going to be covering today is mutations. When you think of mutations, some may think of mutants from X-Men, or mutations that cause people to have a third eye or a sixth finger. However, most mutations in our everyday life we may not even notice at first glance. Mutations are important in our life since it got us to where we are today through evolution. However, most mutations tend to cause more harm than good. Hi everyone. Today I'm going to be talking about general mutations. My name is Olivia Abig, and let's start off with the basics. What is a mutation? A mutation is a heritable change in the genetic material. There are several consequences of this that can cause both positive and negative effects on the organism. However, the majority are negative. How does a mutation cause these consequences? The base sequence can be substituted, or one or more bases can be added slash removed from a gene. There are a variety of mutations that cause these consequences with a range of severity. These types of mutations include silent, missense, nonsense, and frameshift. A silent mutation does not alter the amino acid sequence, even though the nucleotide sequence has changed. This ultimately causes no effect on the body or any consequences. A missense mutation is a base substitution that changes a single amino acid in a sequence. This can have a varying range of changing protein function, depending on the chemistry of the amino acid. The more similar the chemistry, the less likely to alter the protein function, and the more different the chemistry, the more likely it is to alter the protein function. A missense mutation can have a very large consequence of the change of the amino acid, and thus the protein. A nonsense mutation can cause translation to be ended earlier, as it involves a change from a normal codon to a stop codon. This has a detrimental effect on the protein function, as it is much shorter and less likely to function. A frameshift mutation is an addition or deletion of a number of nucleotides that is not a multiple of three. A completely different amino acid sequence occurs from the mutation, which likely inhibits protein function. Now that you guys know more about mutations, it's time for a medical mystery segment. Hi, my name is Zahra Lateef, and let's get into it. The patient's name is Morgan, and she is a newborn who is coming in with her parents after some abnormal results showed up in her newborn screening. The doctor recommends a sweat test that checks the amount of salt in Morgan's sweat. The test indicates that there is a high amount of salt in Morgan's sweat. On top of that, Morgan's parents informed the doctor that Morgan has been coughing and wheezing a lot. She seems to be experiencing shortness of breath. The doctor needs help diagnosing Morgan. Now it's time for you guys to pause this podcast and get to researching to solve this medical mystery. Before you get going, I'll give you guys a hint. Remember, the topic of today's podcast is mutations. I will now reveal the answer to this medical mystery. Morgan has cystic fibrosis. To further confirm the diagnosis, the doctor also orders a genetic test for Morgan. The results of this genetic test do in fact confirm that Morgan has cystic fibrosis. That's it for today's medical mystery. Now we will get into what exactly is cystic fibrosis. Within the cystic fibrosis transmembrane conductance regulator gene, there are about 2,000 known potential mutations that can cause symptoms of cystic fibrosis. The most common being a nonsense mutation that causes part of the CFTR gene to be lost and the resulting protein does not function properly. The malfunctioning of this protein causes a thick, sticky mucus to form and blockages in the digestive and respiratory system. Every organ that produces mucus, so within the lungs, pancreas, liver, intestines, and sweat glands, the CFTR protein is produced. And thus, this disease has potential implications all across the body. People with the mutation make sweat that is much saltier than those without the mutation and the mucus produced has much less water present. It is also important to note that this disease is a recessively inherited disorder, meaning that two copies of the mutation must be present for the person to demonstrate symptoms characteristic of cystic fibrosis. While there is no known cure for this disease, there are several treatment options to improve quality of life and increase lifespan. Treatment is focused on keeping airways clear, medicines, and even potentially surgery. Medicines include those that improve the functioning of the failing CFTR protein, they fight infections, clear mucus, and those that maintain and improve overall lung function. Some examples of these medicines are antibiotics, anti-inflammatory medicines like ibuprofen, bronchodilators, which relax and open airways, and CFTR modulations, which improve the functioning of the CFTR protein, and finally, mucus thinners. For those with complicated conditions, a lung or liver transplant may help improve conditions. Now that we know more about cystic fibrosis, let's see what this all means for Morgan and her family. Her parents might need to give Morgan enzymes before feeding her, and they will need to clear her lungs at least twice a day using a technique called airway clearance. In infants, this is done by clapping on the chest in a certain way. Although there is no cure for cystic fibrosis, there is hope for a bright future for Morgan. According to the CFS patient registry, children with cystic fibrosis grow up to lead full, productive lives despite their disease. In 2017, the registry found that 51% of adults with cystic fibrosis worked in full or part-time jobs. 42% of adults with cystic fibrosis are married or living together. Morgan is now a college student at U of I and has had the opportunity to learn more about cystic fibrosis. She has been inspired by the MCB 150 class she is taking this semester and says that it has motivated her to try to become a genetic engineer to make a positive impact in the cystic fibrosis community. That's all for today's episode of Biology Breakdown. We hope you learned something new about mutations in cystic fibrosis. See you next time!