RBM2133 Cell And Molecular Biology: Monogenic Disease

RBM2133 Cell And Molecular Biology: Monogenic Disease

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RBM2133 Cell And Molecular Biology

Task

The goal of this assignment is to explore the scientific literature with respect to a monogenic disease (i.e. a disease arising from a single gene modification). write a report that is focused upon the molecular and cellular aspects of the disease (not the pathophysiology or clinical treatment). That is, to write a report that clearly investigates how the disease/condition arises due to the abnormality of the single gene and how this alters the normal genetic, biochemical, and cellular processes.

Topic: Tuberous Sclerosis (TSC1 or TSC2 gene)

Instructions

To help you to address the topic in a manner that provides a full and interesting report, think about the following questions. These questions are just to consider it.

The main focus should be about cellular mechanism, how Dna issue becomes another issue, research on the molecular part and gene part of this disease.

 What is the name of the gene? On which chromosome is the located? What is the structure of the gene (e.g. umber of introns and exons)? How is the expression of the gene controlled (e.g. what turns the gene on or off)? When and where is the gene expressed? What is the gene product (protein)? What is the normal function of the protein?

What is the structure of the protein? Where the protein normally localised within the cell (cytoplasm, plasma membrane, nucleus, etc.)? What type of mutation(s) occurs?

How is the normal function the protein and cell altered by the mutation to cause the disease/disorder? How does the change at the genetic level and/or at the protein level impact on the other molecules of the cell and tissue? How is the function of the cell or tissue altered?

This is not an exhaustive list of questions you should think about.

You can refer to the pathophysiology (maybe briefly in the Introduction) that occurs in an organ or at the whole-body level BUT this should only be a small component of your report if included. Furthermore, do not include information regarding clinical management of the disease. Finally, in regard to treatment, only refer to treatments if the treatment acts at the molecular cell biology level of the disorder/disease.

Instructions For Developing And Writing The Assignment

1. Make sure you have a recognisable introduction, one or more paragraphs that represent the body, and a conclusion in your assignment.  Marks are given to each of these sections.

2. The introduction should introduce the disease and highlight its significance/importance. Very briefly highlight the major feature(s) of the disease, its prevalence in the community, and expected impact on the individual (this is an opportunity to briefly mention the pathophysiology). Mention when it was first identified and by whom.

3. The body of the assignment contains the factual material and the interpretation of this material.  Headings and sub-headings will help to structure your assignment.  Similar ideas should be grouped together, not scattered throughout the assignment.

4. Remember – put one idea to a paragraph, but you should generally have more than one sentence to a paragraph.  A paragraph usually introduces the idea, explains it, gives examples and then provides a linking statement to the next idea (in a new paragraph).

 The main body should attempt to answer as many of the questions highlighted above in logical order. With particular attention paid to what is the normal function of the gene/protein and then how is this altered by the mutation.

5. The assignment should contain well-labelled, relevant diagrams or figures. They can be taken directly or adapted from a scientific article or review, but the reference must be provided.  Diagrams must be referred to in the main text and have a figure legend underneath that provides definition for all abbreviations in the Figure.

6. The conclusion should not be a repetition or a simple summary of material in the body but draw together the main aspects of the material in the body of the assignment. New evidence should Not be introduced in the conclusion, a common mistake but you can indicate areas for further research.

7. Do Not copy slabs of text from your sources.  Do Not cut and paste electronic material from the internet or other sources into your work. If you find it necessary to quote verbatim (exact words) from the literature, choose small sections carefully, and clearly indicate where this has been done by quotation marks and a reference in the text that includes the page number.  It is unacceptable to submit work that is comprised mostly of quotations even if they are correctly cited.

RBM2133 Cell And Molecular Biology

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