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The Role of Dystrophin in Duchenne Muscular Dystrophy


Author(s)

Michael J. Wagner
Department of Biology
Muhlenberg College
John Hanna
Department of Biology
Muhlenberg College
Allison.Cornell@cedarcrest.edu
Amy T. Hark
Biology Department
Muhlenberg College
amyhark@muhlenberg.edu

Abstract

This case study introduces students to Duchenne muscular dystrophy (DMD) and its underlying genetics, cell biology, and some of the associated biochemical pathways.  DMD is an X-linked disorder characterized by progressive muscle weakness and wasting due to the absence of a protein called dystrophin, which in turn causes degeneration of skeletal and cardiac muscle. There is currently no established cure for this disease.  The case follows the progress of “Casey,” an undergraduate student who has just declared her biology major and is interested in expanding her scientific understanding of the different fields of biology. The case is organized in three parts: genetics, cell biology, and biochemistry, each exploring DMD through its unique lens. Throughout the case, Casey is presented with multiple outlets of information, including class lectures, direct e-mail interaction with a professor, scientific journals and websites, from which she (and any student engaged with the case) gathers knowledge about DMD.


Objectives

  • Identify DMD as a sex-linked disorder and explain why DMD is more common in biological males (XY) than in biological females (XX).
  • Identify different types of genetic mutations including those most closely associated with Duchenne muscular dystrophy (DMD).
  • Discuss the roles of both the dystrophin-associated protein complex (DAPC) and dystrophin protein in maintaining muscle integrity.
  • Describe how orthologous genes in different species are related in terms of biological function.
  • Discuss the role of the wunen gene in converting sphingosine-1-phosphate to sphingosine and how its suppression contributes to the reduction of DMD phenotypes in Drosophila.
  • Retrieve scientific results and obtain information from scientific figures and diagrams.

Keywords

Muscular dystrophy; Duchenne muscular dystrophy; DMD; genetics; sex-linkage; orthologous genes; cell structure; tissue structure; biochemical pathways; pseudohypertrophic; wunen; PLPP3; DAPC

Topical Areas

N/A

Educational Level

High school, Undergraduate lower division, Undergraduate upper division

Format

PDF

Type / Methods

Analysis (Issues), Directed, Discussion, Journal Article

Language

English

Subject Headings

Biochemistry  |   Biology (General)  |   Cell Biology  |   Genetics / Heredity  |  


Date Posted

02/10/2020

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