Protein to disease

Our task for this project was to find a protein that, when mutated, causes a disease. We had to break down the relationship between protein synthesis and the mutation, and what the effects of the mutation were. Our final end product was to produce a presentation on the disease, how and what protein affected it, and the role of protein synthesis.

information Included in our project

Disease info:

What is it

What parts of the body does it affect, symptoms

What protein is affected

Who is likely to get it

What are the treatments? Cure?

Any interesting research going on now?

Protein Synthesis Detail:

Use this to help explain the difference between normal and diseased protein

For each stage:(transcription, translation, protein folding)

What is happening→ how and why

Where is it happening

What are the major players

What is the code/ sequence

Our Final Project

Content / Vocabulary Used

Different ways of having a protein mutation:

• Nonsense mutation
  • The change in one DNA base pair that prematurely signals the cell to stop building a protein. Might result in a shortened protein that may function improperly or not at all.
• Missense mutation
  • A change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
• Frameshift mutation
  • Addition or loss of DNA bases changes a gene's reading frame (groups of 3 bases that each code for one amino acid) A frameshift mutation shifts the grouping of these bases and changes the code for amino acids. The resulting protein is usually nonfunctional. Insertions, deletions, and duplication can all be frameshift mutations.
• Insertion
  • This changes the number of DNA bases in a gene by adding a piece of DNA into the sequencing
• Deletion
  • A change in the number of DNA bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. This changes the amount or type of protein created.
• Duplication
  • this is a piece of DNA that is abnormally copied one or more times. it may alter the function of the resulting protein.

Reflection

While doing this project, I became very familiar with the process of Protein Synthesis. At first, I had trouble understanding the concept. But, after putting the concept into practice during this project and seeing how it correlates with diseases that people have, I understood it better. I feel like my process of understanding challenged me to use my critical thinking skills. A second area where I feel that my group succeeded in was collaboration. Throughout this project, the three of us have been equally dividing the work and communicating what we need to be most successful. This is not always easy to do within a group, so I feel like this is an accomplishment. One thing that I would improve about this project is our timeline. We, as a group, did not practice good time management and left certain aspects of the project until the very end when we were rushed for time. This is something that I will continue to work on in the future, and try to learn from these mistakes. Overall, this project was successful and enjoyable to work on.