Case 2-Bartter's Syndrome and Protein Structure Spring 2020. University Of Georgia BCMB 3100

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Life works because of proteins; when proteins don’t work, disease typically occurs. Protein function is
dictated by protein structure. Protein structure can be explained through basic chemistry that you
learned in gen chem, e.g., hydrogen bonding.
 Briefly describe Bartter’s syndrome and the role of the gene KCNJ1.
 Explain ion channels and why they are needed by the cell.
 Explain why the potassium ion channel excludes sodium ions but not potassium ions.
 Explain why polar and non-polar residues of the potassium ion channel are distributed as they are.
 Contrast the distribution of amino acids between membrane proteins and cytoplasmic proteins.
 Describe in detail the secondary, tertiary, and quaternary structure of the potassium ion channel.
 State whether an alpha helix has an internal pore and where the side chains are located in an alpha
helix.
 Describe how hydrogen bonding gives rise to alpha helical structure.
 Consider how changes in amino acid atoms would impact this hydrogen bonding.
 Describe how non-covalent interactions give rise to tertiary and quaternary structure.
 Consider how changes in amino acid side chains will impact these structures.
The Story
“Imagine knowing something is wrong with your baby, but medical professionals cannot provide a
diagnosis. Frustrated and scared, you spend every waking moment agonizing about your child’s health
and quality of life; you feel helpless and alone. Nobody seems to understand, and some people even
Adapted from a case study by Paula Lemons; updated by Sarah Robinson; updated by Jin Kyu Lee, Fall 2019