Each pair of students will choose an inborn error of metabolism to study from a list provided.  Together, the you will prepare a presentation addressing this disease.  The information should focus on the biochemical perspective and should address all the points listed below.

Requirements

  • Prepare a poster to be presented at a poster session during 9th week.  The electronic version of this poster will also be handed in to me via Nexus.
  • Prepare a handout that summarizes your poster on one side of one page in type no smaller than Times 12 point.

Points to be addressed

  1. The pathway that is affected in this disease.
  2. The protein that has been mutated, its overall structure, its active site, the reaction it catalyzes, and its role in the cell.  Include pictures of the protein and the active site in your presentation.  These can be generated using FirstGlance.
  3. The specific mutation(s) involved and why these mutations affect the function of the protein involved.  (A maximum of 5 mutations should be discussed.)  Discuss the location of these mutations on the protein structure.
  4. The effect of the disease on the patient suffering from it, and the frequency of the disease in the population. (If there are many forms of the disease, discuss only one or two of them.)  Does the deficiency offer its sufferers any survival advantage?
  5. The test for the disease (including why it works) and the treatment for the disease (including why it works).
  6. Identify any clinical trials going on or recently completed for treatments or interventions for the disease. What was the hypothesis/goal of the clinical trial? If completed, what was the outcome?
  7. One additional topic of your choice that is approved by the instructor.
  8. Use at least one recent (after 2018) journal article in your discussion. This article must be primary literature (a research article) and not a review (although you may and should use reviews for information about the disease). The date limit can be extended at my discretion.

Suggestions for getting started

  • Go to PubMed
    • This is a database of medically-related journal articles.  Many of the journals we are interested in will NOT be available in the library.  You will probably need to use ILL (plan ahead!), but check the library collection first.  Just because you cannot get it online does not mean that we don’t have the article.  Often it is most useful to start with a review article. (A review article is one that summarizes the current state of knowledge on a particular issue.)
  • Use Online Mendelian Inheritance in Man (OMIM)
    • This is a database of human genes and genetic disorders.  It will give you an overview of the disease and some good links to journal articles.
  • Look at KEGG Pathways
    • This is a database of metabolic pathways and their constituent enzymes.
  • If you are stuck, make an appointment to talk to me, but don’t wait until the last minute!

Cautions

    • Scrupulously avoid plagiarism.  If you take an idea from someone else, you MUST give them credit.   I take this very seriously.
    • Quotes are not generally used in scientific work. Rather, you should paraphrase what has been read in your own words and then clearly cite the reference that you used.
    • The posters should have dimensions of 36″ x 48″. I will take care of printing them. Be sure that your font is easily readable (anything smaller than 18 will be illegible).
    • Web sites will not be acceptable as citations except for those listed above.
    • List of possible inborn errors of metabolism to study:
      1. carnitine palmitoyltransferase deficiency
      2. MCAD deficiency
      3. Von Gierke’s Disease*
      4. ornithine transcarbamoylase deficiency
      5. Cori’s Disease*
      6. McArdle’s Disease*
      7. orotic aciduria
      8. spondyloepimetaphyseal dysplasia, Type II
      9. metachromatic leukodystrophy
      10. triose phosphate isomerase deficiency
      11. DOPA decarboxylase deficiency
      12. coproporphyria
      13. Bloom syndrome
      14. Bradyopsia
      15. carbamoyl phosphate synthetase deficiency
      16. Canavan disease
      17. citrullinemia, Type II
      18. xeroderma pigmentosum
      19. Wilson disease
      20. Wiscott-Aldrich syndrome
      • *Note that since these diseases are somewhat similar, only 2 may be chosen

Other sites to find potential enzymes: