MODULE 6 Maple Syrup Urine Disorder
As technology and Biology advance at a great rate it is becoming easier to take advantage of a basic scientific objective: sharing data. This vast amount of data being produced can, however, become a burden if one does not have the tools to decipher it. Using the National Center for Biotechnology’s web site, you will be able to locate and learn about many different genetic disorders.
- Log on to the National Center for Biotechnology’s web site at: http://www.ncbi.nlm.nih.gov/
- On the right side of the page find the menu item Genes & Diseases and click on it.
- Page down to the section of disorders titled Nutritional and Metabolic Diseases.
- Find Maple Syrup Urine Disease and click on it.
- Why is this disease named “Maple Syrup Urine Disease”?
- What causes this disease?
- What amino acids are involved?
- Who is usually affected by this disease? Why?
- Scroll down on the left side of the page to the “links” section. Click on genome view. Do you get any information from this?
- Go back to links and click on entrez gene.
- What chromosome is Maple Syrup Urine disorder located on?
- Go back to the top of the Genes and Disorders page and click on the chromosome that carriers the Maple Syrup Urine Disorder gene.
- Describe this chromosome.
- What other disorders are located on this chromosome?
- Which disorder is geographically closest to MSUD on the chromosome?
- Describe this disorder. (Click on the disorder name)
Answers MODULE 6
Exploration of Maple Syrup Urine Disorder
As technology and Biology advance at a great rate it is becoming easier to take advantage of a basic scientific objective: sharing data. This vast amount of data being produced can, however, become a burden if one does not have the tools to decipher it. Using the National Center for Biotechnology’s web site, you will be able to locate and learn about many different genetic disorders.
- Log on to the National Center for Biotechnology’s web site at: http://www.ncbi.nlm.nih.gov/
- On the right side of the page find the menu item Genes & Diseases and click on it.
- Page down to the section of disorders titled Nutritional and Metabolic Diseases.
- Find Maple Syrup Urine Disease and click on it.
- Why is this disease named “Maple Syrup Urine Disease”?
The first sign of this disorder is urine that smells like maple syrup due to improper breakdown of amino acids.
- What causes this disease?
The metabolism of 3 amino acids is disrupted and they accumulate in the urine. This is due to a mutation in the E1 alpha-subunit of the BCKDH complex.
- What amino acids are involved?
Amino acids affected are valine, leucine and isoleucine.
- Who is usually affected by this disease? Why?
The Mennonite community of Lancaster County Pennsylvania is most commonly affected by this disorder. There is a 1 in 176 chance that a child will be born with this disease.
- Scroll down on the left side of the page to the “links” section. Click on genome view. Do you get any information from this?
NO!
- Go back to links and click on entrez gene.
- What chromosome is Maple Syrup Urine disorder located on?
Chromosome 19 is affected.
- Go back to the top of the Genes and Disorders page and click on the chromosome that carriers the Maple Syrup Urine Disorder gene.
- Describe this chromosome.
1700 genes, 60 million base pairs 85% of which have been determined.
- What other disorders are located on this chromosome?
Myotonic Dystrophy, Severe Combined Immunodeficiency, Atherosclerosis. (Not using MAP VIEW).
- Which disorder is geographically closest to MSUD on the chromosome?
Myotonic Dystrophy
- Describe this disorder. (Click on the disorder name)
Disorder that causes muscles to contract but not to relax. May cause mental deficiency, hair loss and cataracts.