Central Dogma and Genetic Medicine

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Central Dogma and Genetic Medicine Genetics Published January 2018 www.BioInteractive.org Page 1 of 4 Click & Learn Student Worksheet Central Dogma and Genetic Medicine OVERVIEW This worksheet ... complements the Central Dogma and Genetic Medicine Click & Learn. PROCEDURE As you proceed through the Click & Learn, follow the instructions below and answer the questions in the spaces provided. 1. Let’s review! The central dogma of molecular biology refers to the process of gene expression. Write the definition of gene expression in your own words. 2. Click on the “Central Dogma” menu tab at the top of the screen. The table below outlines the steps in eukaryotic gene expression. Click on each tab or scroll through the page and briefly summarize each step below. Gene Expression Steps Molecules Involved What molecules and proteins are involved in this step? Summary What happens during this step? Transcription RNA Splicing mRNA Transport Translation Protein Processing The phenotype of the gene/the characteristic that is shown. WHen the chain is complete the polypeptide will fold into a 3D protein and do a specific kind of function. This is done in the Golgi or in the cytoplasm. RNA Polymerase, DNA, RNA, Exon and Intron RNA Polymerase converts information from a section of the DNA into a complementary sequence with the tRNA. Spliceosome, Inron, Exon The spliceosome cuts up introns and splices together exons to create mRNA mRNA The mRNA is sent out the nucleus and into the cytoplasm mRNA, tRNA, Ribosome, Polypeptide Amino acids are put together in a chain by the ribosome once it reads the code from the tRNA that it recieved from the mRNA. Polypeptide This study source was downloaded by 100000805705997 from CourseHero.com on 03-28-2021 01:27:25 GMT -05:00 https://www.coursehero.com/file/47048006/3-VAIKUNTHRhidampdf/ This study resource was shared via CourseHero.comCentral Dogma and Genetic Medicine Genetics Published January 2018 www.BioInteractive.org Page 2 of 4 Click & Learn Student Worksheet 3. Mutations in the DNA can affect the structure and function of proteins. Some mutations may even cause genetic diseases. Scientists and doctors can intervene at different points during gene expression to develop treatments for such genetic diseases—or genetic medicine. Let’s learn about the genetic medicines that are being developed. Select the “Genetic Medicine” tab located on the top right of the screen. Click on the tab corresponding to the genetic medicine(s) that your instructor assigns to you, or scroll through the interactive and click on the pink “+” sign labeled with that genetic medicine. Read the “Genetic Medicine” tab material, watch the video, and read the information in the “Learn more” link. Then, complete the appropriate row(s) below. Genetic Medicine Short Summary Write a one-sentence summary of how this genetic medicine works. Detailed Description Describe how this genetic medicine would be used to treat a genetic disease. (For example, mention how it would fix the disease-causing mutation and/or result in a functioning protein.) CRISPRCas9 Gene Therapy Gene Switches Exon Skipping RNA Interference Small Molecule Drug Cas9 unwinds the DNA, while the guide Rna will bind to the target sequence and scientists can add or replace DNA. This could be used to fix mutations, caused by diseases, by removing the faulty sequence with the correct sequence for a normal functioning protein. The harmful section of the virus is replaced with a theraputic gene and this is then put into the body Gene Therapy can infect the target cells with the correct Genome and fix/remove the DNA that is injected by the virus. This will keep proteins functioning normally. Gene switches affect the activity of RNA Polymerase by binding to different proteins. Gene switches can be turned on or off, so harmful diseases caused by mutaions could potentially be turned off. Antisense RNA binds to a sequence of RNA that causes the splicing agent to skip over a segment, thus removing an exon. Exon skipping changes how the RNA splices, so the disease causing exons can be removed and a partially function protein can be created. RISC attaches to a sequence in the mRNA and expression of that gene is prevented. RNA interference can supress diseases causing gene by preventing the creation of some proteins. Small-molecule drugs can be easily taken in by cells so they can block the negative affects or enhance the function of a protein Small-molecule drugs can be taken in with pills or injected into the body the restore a protein to function properly. Asprin inhibits an enzyme that cause inflamation. This study source was downloaded by 100000805705997 from CourseHero.com on 03-28-2021 01:27:25 GMT -05:00 https://www.coursehero.com/file/47048006/3-VAIKUNTHRhidampdf/ This study resource was shared via CourseHero.comCentral Dogma and Genetic Medicine Genetics Published January 2018 www.BioInteractive.org Page 3 of 4 Click & Learn Student Worksheet 4. Now let’s learn about some of the diseases that may be treated using these genetic medicines. Scroll through the interactive and click on the pink “+” sign that is labeled with the disease(s) that your instructor has assigned to you. Next, click on the “Case Study” tab at the top to reveal information about the disease. Read the “Case Study” material, watch the video, and read the information in the “Learn more” link. Then fill in the appropriate row(s) in the table below. Name of Disease What are the key characteristics of the disease and whom does it affect? How can the featured genetic medicine be used to treat the disease? Leber Congenital Amaurosis Sickle Cell Disease Duchenne Muscular Dystrophy Huntington’s Disease Cystic Fibrosis This disease affects 2-3 people per 10,000 new borns in the US. It cause extreme far-sightedness or blindness at birth. It's caused by a genetic mutation which doesn't allow the retina to convert light properly. Gene Therapy can be used to replace the mutated gene with LCA that puts a normal gene into the retina for improved vision. Sickle-Cell Disease makes the patient have sickle shaped blood cells that causes a low oxygen rate, higher chance of blood clots, and are immune to malaria. Scients try to use gene switches in order to turn off the gene that gives these blood cells the sickle shape. It is a sex linked disease that almost always affects males. It ives progressive muscle weakness and the muscle cells become more damaged. Eventually the muscle cells that keep the heart pumping shut down as well. Scientists try using exon splicing in order to splice out the exons containing the disease which allows for a semi-functioning protein instead of none at all. It's an autosomal dominant disease that affects the brain. Sytoms come during adulthood(dimentia, decreasing motor function, and soon death). RNA interference is used to reduce the production of mutant HTT protein by destroying it in the mRNA. HTT is needed for brain function, but this mutated version kills the brain cells over time. It's an autosomal recessive disease that is caused by a mutation to the CFTR gene. This mutaion inhibits the channel that transports chloride ions to not function properly. Instead mucus is created that will block air pathways and cause bad infections. A small molecule, lumacaftor, improves the processing by increasing the amount of protein in the cell membrane. This study source was downloaded by 100000805705997 from CourseHero.com on 03-28-2021 01:27:25 GMT -05:00 https://www.coursehero.com/file/47048006/3-VAIKUNTHRhidampdf/ This study resource was shared via CourseHero.comCentral Dogma and Genetic Medicine Genetics Published January 2018 www.BioInteractive.org Page 4 of 4 Click & Learn Student Worksheet APPLY WHAT YOU HAVE LEARNED 5. You are a researcher working on a treatment for Hutchinson-Gilford progeria syndrome, an extremely rare genetic disorder that causes accelerated aging in children. Children with progeria generally appear healthy at birth but soon start growing more slowly than other children and lose their hair. Additional symptoms include stiffness of joints, heart problems, and stroke. These children typically die of heart disease at an average age of 13 years. Progeria is caused by a mutation in a single gene, called lamin A. Scientists have identified over 1,400 mutations in the lamin A gene that result in changes in transcription, RNA splicing, and/or protein production. Lamin A codes for a protein required for the structural support of the nuclear envelope in cells. Without a functional protein, the nuclear envelope becomes unstable, eventually damaging the nucleus and causing cells to die. Based on what you learned in this Click & Learn, propose a genetic medicine strategy you could develop to treat patients with progeria. Describe which step in gene expression you might target and why you would target that step, the intervention tool you would use, and explain how this strategy would treat the disease. If we target the RNA splicing step in gene expression, then we will have the best chance to treat pateints with progeria. RNA splicing should splice out the exon that has the disease causing mutation so that a semi-function protein could be made. The protein should be able to support the nuclear envelope, even though it is semi-functioning, and reduce cell death for the patients. This study source was downloaded by 100000805705997 from CourseHero.com on 03-28-2021 01:27:25 GMT -05:00 https://www.coursehero.com/file/47048006/3-VAIKUNTHRhidampdf/ This study resource was shared via CourseHero.com Powered by TCPDF (www.tcpdf.org [Show More]

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