The goal of this assignment is to familiarize you with the process going from the characterization of a disease in human patients, to the identification of a mutated gene causing it, to the use of a mouse model to investigate how this mutation is causing the disease. You will learn about the spinocerebellar ataxia 1 (SCA1) genetic disease as an example of such a process.
This assignment is inspired by and uses content from, the lecture “A Healthy Nervous System: A Delicate Balance” on BioInteractive. Watch the video, (it may also be useful to download the transcript for reference) and answer the questions below.
Question 1: Based on this video, describe the symptoms of the SCA1 disease.
SCA1 is a familial disease as indicated by the pedigree analysis chart shown on the video and in the image below.
Tracing Family History
Question 2: Explain how to read the chart by indicating what the squares and circles represent and what is the difference between filled and hollow shapes.
Question 3: Discuss what conclusions can be drawn from the pedigree eg assuming that the disease is caused by the mutation of one single gene, do you think this mutation is recessive or dominant? Are the affected individuals more likely to be heterozygous or homozygous for this mutation? Is the disease affecting equally men and women? For each conclusion, make sure to explain how it is supported by the pedigree.
The Online Mendelian Inheritance in Man (OMIM) database is a frequently updated database of human genes and genetic diseases. Search for SCA1 on OMIM. Read quickly through the page to get a general idea of the types of information that can be found on it and how they are presented. Identify the gene whose mutation is responsible for the SCA1 disease, search for it on OMIM and have a quick look at the corresponding page.
Question 4: Based on the descriptions in OMIM and the information from the video, indicate what genetic mutation is responsible for the SCA1 disease and what consequence it has on protein primary structure.
Question 5: Which organ and cell type are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?
Mice are generally a good model for human diseases, if you wish, you can read more about the benefits of the mouse model on The Jackson Laboratory website Advantages of the mouse as a model organism.
Mouse models of SCA1 have been developed and helped researchers to understand this disease and to experiment new treatments.
Question 6: From the video describe the phenotype of the SCA1 mouse. Is it similar to symptoms observed in SCA1 patients?
Question 7: Is SCA1 considered to be caused by a loss of function of the protein affected, or is it thought to be due to another mechanism?
Question 8: Based on the findings from the mouse model, researchers then developed an SCA1 model in Drosophila – what are the advantages of using a Drosophila model over a mouse one
Question 9: Using the Drosophila model of SCA1, what was the protein kinase they found to be implicated in SCA1 associated neurodegeneration and why is this knowledge useful with respect to treating the disease?
Why Choose Instant Nursing Papers?
Quality Nursing Papers
We assist students in achieving the best top-grade in their nursing papers, and in compliance with the provided instructions. Have your nursing paper written with a certified specialist Ph.D., Bachelor's, and Master's graduates with many years of experience in academic writing.
Experts with Ph.d., MDs and DNP Holders
Our writers have acquired Ph.D., MDs and DNP credentials from world class institutions. Our writers can handle papers from any discipline and can handle over 100+ subjects.
Nursing Papers Cheap
We provide a great deal of student-friendly prices and professionalism with all our nursing essay writing services. Our paper writing services have a user-friendly interface and professional nursing academic assistance. We are committed to assisting all students with their nursing assignments and projects regardless of their academic level.
Fast Paper Delivery
Our writers follow a strict schedule to ensure papers are delivered before the deadline to enable our editors to proofread before the final delivery to our customers. We strictly observe the early delivery of assignments to meet our clients' deadlines.
Plagiarism-free Nursing Papers
Our expert nursing paper writers are dedicated to conducting thorough research and writing papers from scratch to deliver original papers. To avoid paper plagiarism, all orders go through steps of writing, editing, and proofreading.
24Hour Customer Help
Our customer support is available 24/7/365 to help clients and make their paper writing services easy to use. Our experienced support team is available to answer your queries any time, 24 hours a day.
Try it now!
How it works?
Follow these simple steps to get your paper done
Place your order
Fill in the order form and provide all details of your assignment.
Proceed with the payment
Choose the payment system that suits you most.
Receive the final file
Once your paper is ready, we will email it to you.
Our Nursing Papers Writing Service
We provide Nursing Assignment Services to Nursing students. Also, we are not limited to providing Nursing assignment help to students only. We also provide assignment help and solutions to community health nursing, Anatomy & Physiology, Microbiology, Biochemistry and Biophysics, and Nutrition & Dietetics.
Sit back, relax while our writers sort you out on your most daunting nursing essay queries on how to write a good nursing essay. We got you if you are looking for the best nursing essay services.
It is no doubt that qualifying for a nursing career is difficult and requires a series of tests. Most nursing students must put in a lot of work in their assignments and coursework. Instantnursingpapers.com will help you answer queries such as “who can write my nursing research paper?”.
Nursing Dissertation Help
Instantnursingpapers.com will save you the hustle of undergoing pressure or even depression while doing your nursing dissertation paper. Save yourself from all the long sleepless nights and pressure by working with our best nursing dissertation writing professionals.
Nursing Coursework Help
If you happen to hop into our site in search of nursing coursework help, look no further. We are the number one solution for the best nursing coursework assignments. Therefore, to complete the best APA nursing coursework, seek help from professional nursing coursework experts at instantnursingpapers.com