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Dystrophin Stability and Cardiomyopathy

By Richard J. Kwak, Joyce A. Horton, Zyan Davis, Kristy J. Wilson

Dystrophin Stability and Cardiomyopathy


 

Abstract

Many students struggle with how the function of a protein can be dictated by that protein’s molecular makeup. In this case study, students learn about the structure and function of dystrophin, a protein that is involved in the contraction and protection of muscle fibers. Students read a story about a six-year-old boy who suffers from X-linked dilated cardiomyopathy due to a missense mutation in the dystrophin gene that changes the 18th amino acid from a lysine to an asparagine. Rather than cause the resulting protein to lose its function, this mutation merely weakens the overall stability of the protein because of the difference in bond strength between the R groups. As students work through the case, they answer questions and analyze data figures of thermal and denaturant melts for the wildtype and the variant protein. This case study is best suited for intermediate-level biology courses like biochemistry, cell biology, or molecular biology.

   

Date Posted

10/09/2023

Overview

Objectives

  • Describe the structure-function relationship of dystrophin in normal and pathologic conditions.
  • Determine bond strength and relate it to protein thermal and pH stability.
  • Examine how thermal melts and denaturation melts are used to measure protein stability.
  • Examine connections between protein stability and disease.

Keywords

Protein structure; amino acids; protein stability; structure function relationships;  dystrophin; muscular dystrophy; cardiomyopathy; thermal melt; denaturation

  

Subject Headings

Biochemistry
Biology (General)
Molecular Biology
Organic Chemistry

EDUCATIONAL LEVEL

Undergraduate lower division, Undergraduate upper division

  

FORMAT

PDF

   

TOPICAL AREAS

N/A

   

LANGUAGE

English

   

TYPE/METHODS

Directed

 

 

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