Friedreich's ataxia is
a progressive (i.e. it gets worse over time), hereditary neuromuscular disease.
People with this affliction have trouble coordinating the way they walk
and write. They also have trouble keeping their balance which makes them
look intoxicated. Their poor muscle coordination is caused by damage to
the neural tissue in the spinal cord. No cure exists for Freidreich's
ataxia, but some of the symptoms can be treated to increase the patient's
quality of life.
The OMIM database (available through MRS)
contains much information about hereditary diseases. You can search the
database for diseases but also for proteins. It contains a lot of
descriptions of mutations that cause diseases. In this research project,
you can find out more about Friedreich's ataxia using OMIM and other
databases.
This project is all about data mining: we start with very little information and increase our knowledge by combining the things we find in several databases. MRS and a search engine on the web (like Google) are key tools here. The links under the heading Literature and databases will give you some extra help. Use these hints:
SwissProt
or Uniprot databases to start your search. Perhaps you can even find
a 3D structure in the PDB. Use Yasara
to view such structures, but always make sure you have the right
protein!allelic variants)
in the DNA that lead to a disease. Find a few mutations that cause Friedreich's ataxia and describe the effects they have on the protein.
Use the list of amino acids to
compare the mutated residues with the wild type.
