What is a protein? Proteins are the functional products of the DNA code. When the body reads and interprets DNA it is turned into proteins. These proteins are what act to turn our eyes blue or our hair black. Shown to the right are mutations that occur to genes that make protein important for proper collagen function. Mutations that cause disease can occur directly to collagen or collagen precursors, like in the case of type III collagen and vascular EDS (EDS IV), or to genes that code for proteins that help process and complete the formation of functional collagen. Figure 1: Schematic representation of the different defects in collagen protein synthesis that can result in the different types of Vascular EDS. As you can see, mutations that affect the structure, synthesis, and stability of collagen results in Vascular EDS (Type IV)
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References
1)http://path.upmc.edu/cases/case504/dx.html
1)http://path.upmc.edu/cases/case504/dx.html