Gaucher Disease Lab Report

Great Essays
Incorporating Different Units of Biology into Gaucher Disease
Jennifer Chao
Westminster Secondary School
SBI4U1
Mr. Dunne
January 5, 2015

Introduction There are many units involved in biology, but the main focus of this report involves only five. They are biochemistry, metabolic processes, genetics, homeostasis, and population dynamics. These five units will all relate back to a general topic, which in this case is Gaucher disease. For every unit, there is a question that needs to be solved. This creates more of an in-depth understanding of both the units and the general topic. It will also display many connections between each unit and Gaucher disease.

Background Information
General Topic: Gaucher disease is a metabolic
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Lysosomal storage diseases are caused by the accumulation of substances due to lacking an enzyme that breaks them down. Gaucher disease is an example of a lysosomal storage disease and it lacks the enzyme glucocerebrosidase (Beutler, n.d., para. 1). Enzyme replacement therapy can be used to treat Gaucher disease by following a few simple steps. The way enzyme replacement therapy works is it involves infusing enzymes into a person’s body. The enzymes that are being infused are the ones needed to break down substances. After enzyme infusion is done, the enzyme is supposed to bind to the terminal mannose residues. Then, the residues bind to the mannose receptors and other cells of the reticuloendothelial system. Finally, the enzyme goes to the lysosome by endosomes and it’s now able to breakdown the accumulated substances (Grubb, Sly et al, 2010, p. …show more content…
Different scientists found information on Gaucher disease at different periods of time. Phlippe Charles Ernest was the first to describe Gaucher disease. H. Lieb discovered that there was a specific fatty substance in the spleens of people who had Gaucher disease. A. Aghion was the one to identify that the fatty substance was glucocerebrosidase. Roscoe O. Brady’s research on the accumulation of fatty substances was the key to the creation of enzyme replacement therapy (Living with Gaucher Disease..., n.d., para. 2). Each new piece of information contributed to creating new methods of treatment for Gaucher disease (Living with Gaucher Disease..., n.d., para. 1). Back when Gaucher disease was fairly new, there wasn’t many options for treatment for people diagnosed. That caused the death population of people with Gaucher disease to increase. Now, there are different methods of treatment for Gaucher disease to choose from and scientists are still trying to come up with more (Futerman, Sussman et al, n.d., p. 4). This causes the death population to decrease because there are more survivors in today’s

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