_ Change in characteristics and symptoms of a genetic disease _ Change in the ability of the GAA protein to function properly _ Change in the structure or function of body cells or tissues _ Change in the amino acid sequence of the GAA protein
_ Gene mutation (change in the DNA code in the gene for GAA) Arrange the following phrases in order to indicate the sequence of events that would occur as a result of a gene mutation in the gene that codes for the protein acid alpha-glucosidase (GAA). Explain how the change in lysosome structure and function results in the symptoms ofĦ. Explain how the change in enzyme function affects the structure and function of lysosomes.ĥ. Since enzymes have a particular shape and fit together with specific compounds, if the shape of the enzyme is altered, it will not be able to function properly.ģ. The change in the shape in the GAA protein compromises the enzymatic function of the protein. How does changing the amino acid sequence on your model affect the protein model? Follow the “protein folding rules” on page 3 to refold your protein model.Ģ. To model the effect of a change in the amino acid sequence of a protein, replace one of the yellow beads on your protein molecule with a red bead. In Pompe disease, one amino acid in the GAA protein is incorrect.ġ. This DNA mutation leads to a change in the sequence of the amino acids for GAA.
People with Pompe disease inherit a mutation in the DNA base code that carries the information for how to make the GAA protein. Additionally, the lysosomes can burst, releasing acidic components to the surrounding area and destroying muscle tissue. If lysosomes cannot break glycogen down, they swell, displacing surrounding muscle cells. Pompe disease is a primarily a muscular disease caused by a build-up of glycogen in the lysosomes. GAA processes excess glycogen being stored in the lysosome and converts it to smaller components of glucose. From DNA to Protein Structure and FunctionĪcid alpha-glucosidase (GAA) is a protein molecule found in lysosomes. Fold your protein model into a 3-D shape.ĭraw the secondary structure of your protein modelĭraw the tertiary structure of your protein modelĭraw the quaternary structure of your protein modelĬ.
Sequence of amino acids in protein - the primary structure of your protein model Indicate the color associated with each of the amino acids in the circle below. Translate the mRNA and write the sequence of amino acids in the protein. Transcribe the DNA and write the sequence of bases in the mRNA code Here is the sequence of bases in the DNA code for part of a gene Teacher Page: Answer Key – Part C: From DNA to Protein Structure and Function.