UTF-8Nucleic Acids and Proteins: The Sickle Cell Anemia Connection244245239111org.concord.modeler.text.LineIcon750.03010105<html>
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<strong>Nucleic Acids and Proteins:</strong> The Sickle Cell Anemia
Connection
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<p class="mainidea">
The nucleotides in DNA carry the code for building proteins out of
amino acids. In some cases, a change in just one nucleotide of the
DNA changes one important amino acid, causing a disease.
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<b>Sickle Cell Anemia is a genetic disease that affects more than 50,000
people in America.</b> It causes many symptoms, including fatigue,
paleness, pain and susceptibility to infections and strokes.
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The disease is caused by <b>a mutation in the DNA coding for just ONE
amino acid </b>in the protein hemoglobin. Hemoglobin carries molecular
oxygen (O2), picking it up in the lungs and then releasing it at all the
body's tissues, where oxygen is used for energy production. Red blood
cells are filled with hemoglobin for this purpose. Due to the mutation
in DNA, the protein has a different amino acid at the 6th position in
the chain.
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<b>Below is a model of part of the amino acid chain of the hemoglobin
protein.</b> Use the model to see how it folds in water; then you'll
make the change in the 6th amino acid - the same change that actually
occurs in sickle cell disease - and observe the folding again.
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<strong>What To Do:</strong>
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<b>Run the model of the fragment of hemoglobin, wait for it to stop,
and take a snapshot.</b> The model stops when the protein has settled
into its final shape.
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<b>Reset the model, and use the wand button</b> to change the 6th
amino acid from the left end of the protein from Glutamine (Glu) to
Valine (Val). (There are two Glu's in a row in hemoglobin - the first
one is the 6th amino acid).
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<b>Run the model until it stops and take a snapshot.</b>
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Insert fragment with glutamine here.
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Insert the fragment with valine here:
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Compare the two snapshots. How does the change from Glu to Val change
the structure of the protein?
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<img src="sickledCell.jpg">
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<b><font size="2">Three normal red blood cells and one sickled cell.</font></b>
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<font face="Verdana, Arial, Helvetica, sans-serif">When thousands of
mutated Hemoglobin molecules stick together, they form long fibers.
These fibers distort the shape of the entire blood cell, changing it
from round and flexible to "sickle" shaped and stiff, as in the
picture on the left. In the picture on the right, you can see these
fibers bursting out of a red blood cell. Sickled cells can cause
blockages in blood vessels, so that not enough oxygen gets to the
tissues. This is a major cause of the symptoms of sickle cell anemia.</font>
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<img src="hemoglobinFibers.jpg">
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<b><font size="2">Long fibers of made of stuck-together hemoglobin
proteins burst open of red blood cell. These fibers only form when
the DNA code specifies the incorrect amino acid in hemoglobin.</font></b>
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<strong>SEARCHING FOR A CURE</strong> While there is no cure at the moment
for this disease, there are treatments to help with the symptoms.
Scientists are studying gene therapy in their search for a cure.
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