MCB 181L Genetic Disease Project Part One V4

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Jun 10, 2024

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Natalianna Ferrara MCB 181L Genetic Disease Project The Genetic Disease project will allow you to apply what you have learned about molecular and cellular biology to better understand human genetic diseases. Throughout this project, you will: • Use publicly available databases to find peer-reviewed information on a genetic disorder. ( Part One) • Use the protein databank to retrieve the 3-dimensional structure of a protein altered in a genetic disease. (Part Two) • Read recent research on the diagnosis or treatment of genetic disease. (Part Three) • Compare scholarly articles to articles in the popular media. (Part Three) Part One: Select a genetic disease and use Online Mendelian Inheritance in Man (OMIM) to research its transmission This week, you will select a disease to research and describe its clinical features and genetics. You will be using the peer-reviewed and expertly curated database, Online Mendelian Inheritance in Mann ( https://omim.org ), to research the disease. Please watch the pre-lab lecture for a tutorial on using the database before you begin. Not sure what to research? The National Human Genome Research Institute (NHGRI) has a high-quality information page on genetic diseases. You are free to select any disease in OMIM. However, this project will be much easier for you if you choose a condition that does not have complex genetics. Here are some (but not all) choices that work well with this project because the mechanism of genetic transmission is clear: • Sickle cell anemia • Cystic fibrosis • Huntington disease • Hemophilia • Lynch syndrome • Xeroderma pigmentosa • Marfan syndrome • Fragile X syndrome • Hemochromatosis • Congenital adrenal hyperplasia • Duchene muscular dystrophy • Tay-Sachs disease • Charcot-Marie-Tooth disease • Alpha antitrypsin deficiency • Phenylketonuria • Severe combined immunodeficiency • Wilson disease • Thalassemia

Natalianna Ferrara Once you have selected disease and found it in OMIM, please answer the following questions: Topic: 1. (1 pt) What is the disease are you researching this semester? I will be researching Huntington Disease this semester 2. (2 pts) Is it known by multiple names? If so, please list alternative names noted in OMIM. Huntington’s disease is also known as “HD” or “Huntington Chorea.” 3. (2 pts) Does it have multiple forms? If so, please list the various forms then decide which one you would like to focus on this semester. Huntington’s disease has multiple forms depending on its likeness. Huntington Disease -like 1 or HDL1 is the early onset form of the disease. Huntington’s Disease -like 2 or HDL2 is typically present in middle life. And Huntington’s Disease -like 3 is typically present in childhood compared to later life. I will be focusing on Huntington’s Disease like 1 or HDL1. Clinical Features (Phenotype): 4. (10 pts) Summarize, in your own words, the information from the description and clinical features section. The clinical features section often describes multiple papers characterizing the disease. I do not expect that you will understand the details of the studies. Please do not rewrite every detail from every case. Instead, write a summary that points out noteworthy similarities and differences in the literature. (approximate length: 100-400 words) Huntington’s Disease -like 1, or HDL1, is an early onset neurodegenerative disorder that has generational factors attached to its effectiveness. This disease is mainly caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13, different from HD normal. Several papers have been conducted by research scientists to help understand the mutation of this disease, how it differs from HD normal, and the causes and symptoms attached. Some notable information about the disease are as follows, the age of the early onset ranges can range from 23 to 41, with some of its more common symptoms being personality changes, cognitive decline, personality changes, motor disturbances, and seizures. Scientists and doctors used various diseases to diagnose patients with HDL1, however, the specific gene abnormality is the indicator for HDL1. Genetics 5. (5 pts) How is it transmitted? (e.g., autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, complex, or multigenic).

Natalianna Ferrara It is transmitted through an autosomal dominant inheritance pattern in a particular gene. 6. (5 pts) What gene(s) is/are mutated in this disorder? The gene mutated in this disorder is the PRNP gene. 7. (5 pts) What chromosome is the gene located on? The gene mutated is located on chromosome 20p13. 8. (10 pts) Summarize, in your own words, the information from the molecular genetics and/or population genetics section on OMIM. This resource describes multiple papers characterizing the disease. I do not expect that you will understand the details of the studies. Please do not rewrite every detail from every publication cited. Instead, write a summary highlighting information that would be of interest to a general audience and discuss any notable similarities and differences in the literature. (approximate length: 2 100-400 words) From the Molecular Genetics section, certain clinical symptoms and genetical makeups of the HDL1 disease have been discovered based on its differences and similarities from other prion diseases. The disease occurs based on a gene mutation in the PRMP gene and an 8- octapeptide repeat. Scientists based their research on another similar disease the Creutxfeldt-Jakob disease, but the notable difference was a nucleotide insertion with the gene. This along with other molecular genetic makeups is the main cause for early-onset Huntington’s disease. Refection 9. (10 pts) Reflect upon using OMIM to research the disease you selected. Have you used this database in the past? If so, when and for what purpose? How easy or difficult was it for you to find and process the information? What stood out to you? Reflecting on using the OMIM website to research Huntington’s Disease – like 1 has been a great experience. I have not been able to use this database in the past, so this was a new experience for me. However, being a first-time user this database was super simple, and easy to find all the information needed for my project. The main thing that stood out to me was just how much information it has collected over time. I really liked how it included different perspectives from different scholars on one database about the background information and the molecular genetics of HDL1. WORK CITED Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {MIM number}: {Date last edited}: URL: https://omim.org/

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