Structural Biochemistry/Duchenne Muscular Dystrophy

Overview

Duchenne Muscular Dystrophy is a fatal genetic disorder that affects the X-chromosome and is commonly found in men. It is found across all cultures and races. Duchenne occurs in approximately 1 in every 3,500 male births. It is caused by a mutation in the X-chromosome were a gene encodes for dystrophin.

Effects

Duchenne Muscular Dystrophy results in a loss of strength. This is due to the lack of dystrophin, which allows for muscle cells to be damaged easily. The heart and lungs are affected the most since muscles become progressively weaker.

http://www.childrensnational.org/files/Images/research/ResearchCenters/CGMR/Duchenne_MuscularDystrophy.jpg

Cause

Dystrophin acts as a glue, which holds muscles together and maintains the structure of cells. It is also known to carry signals inside and outside of muscle fibers. Since dystrophin is carried on the X-chromosome, and boys only carry one X-chromosome, they are more susceptible to damage. Boys is considered diagnosed with Duchenne when they are unable to produce dystrophin at all. Duchenne is normally passed from parent to child but mainly occurs spontaneously.

References

1. "About Duchenne." Muscular Dystrophy. N.p., n.d. Web. 07 Dec. 2012.