Background
Amyotrophic Lateral Sclerosis
(ALS) is a fatal disease without a cure. Mutations
in the human gene for superoxide dismutase (SOD1) are a common cause
of ALS. Over thirty different mutations have been identified in
SOD1 and many of these mutations change a single amino acid in the SOD
protein.
Through this tutorial, you will read about Amyotrophic Sclerosis (ALS), learn how to find background information about a genetic disease, learn how to find a gene map, find a set of mutations in the gene, and determine where the mutations map in a protein structure. You will also have a chance to guess why the amino acid changes described in OMIM affect the activity of SOD1.
This tutorial has been broken into six parts that correspond to sections in the SOD worksheet, located in our collection of Teaching Materials. Resources are used from the National Center of Biotechnology Information (NCBI) ( www.ncbi.nlm.nih.gov ), the National Library of Medicine (NLM) (www.nlm.nih.gov); and GeneTests.org (www.geneTests.org), an educational site developed at the University of Washington.
Working through the tutorial
There are two ways to work through the different steps in the tutorial.
One way, is to watch how a step works, and then
repeat those steps, on your own, at the relevant website. An
alternate method is to open multiple browser windows and resize
the windows so they both fit side-by-side on your screen. Multiple
windows allow you to watch the tutorial slides in one window
and do your work in the other.
Tutorial Steps
1. Read stories about people who have ALS. One of the most famous people with ALS is Stephen Hawking, the physicist. You can read about Stephen Hawking and ALS or go look through the Patient Support groups in the Genetics Home Reference to find stories about people who this disease.
2. Can ALS be caused by mutations in multiple genes? How is ALS inherited? Learn about the genetics of ALS at:
- See how to find a description Open Genetics Home Reference
- See how to find a review Open GeneTests.org
3. Investigate the SOD1 gene. Learn how to use the Gene database at the NCBI.
4. Research SOD1 mutations in OMIM. Learn about allelic variants in OMIM.
5. Find where mutations map in the SOD protein.
- Click 1L3N and click "View 3D structure" to download a structure for a wild-type SOD1 protein. In order to view the structure, you will need to download and install Cn3D.
- Find the downloaded file and open it in Cn3D.
- See how to find mutation sites in Cn3D
- Download reference sheets with amino acid structures and abbreviations.
- To learn more about protein structures and/or working with Cn3D, see the protein structure tutorials or read through the Cn3D chapter in Exploring DNA Structure.
Before you begin, here are some hints:
- These pages work best with FireFox, Internet
Explorer versions, 5.2 and later, and Netscape versions 6.0 and later.
Note, the pages also work well with Safari, but many of the NCBI
links don't work with Safari.
- The green arrows either point to the link that you should select or provide a link to the next page. Click the green arrows to move to the next slide.
- To see information repeated, reload or refresh the page.
- Return to a previous slide by using the "Back" button on your browser.
- The links shown on the tutorial slides are not active.
- It's helpful to have at least two web browser windows open at the same time so that you can view the tutorial in one window and view the live site in the other.
This series is not meant as a comprehensive description of NCBI's programs, merely a quick guide to help you get started.
Copyright Geospiza, Inc.
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Funding for this project was provided by the National Science Foundation's Course, Curriculum, and Laboratory Improvement Program under grant DUE-0088153 and updated under grant DUE-0127599