Concept explainers
(a)
Interpretation:
The results of graph A about the catalytic activity of the enzyme from the GD cells should be determined.
The reason for the surprising results should be determined.
Concept introduction:
Gaucher disease is caused due to the mutation in the gene that encodes glucocerebrosidase (GCase), the enzyme that degrades glucocerebrosides. This disease is the most common lysosomal disease in humans. The most common symptoms of Gaucher disease is bone pain, fatigue, enlarged liver, and cognitive disabilities.
(b)
Interpretation:
Two possible explanations for the figure B should be determined.
The reason to ensure that the extracts have the same number of cells should be determined.
The purpose for including the western blot for actin should be determined.
Concept introduction:
Gaucher disease is caused due to the mutation in the gene that encodes glucocerebrosidase (GCase), the enzyme that degrades glucocerebrosides. This disease is the most common lysosomal disease in humans. The most common symptoms of Gaucher disease is bone pain, fatigue, enlarged liver, and cognitive disabilities.
(c)
Interpretation:
If the amount of mRNA in both the cells is equal, then the results in figure B should be determined.
Concept introduction:
Gaucher disease is caused due to the mutation in the gene that encodes glucocerebrosidase (GCase), the enzyme that degrades glucocerebrosides. This disease is the most common lysosomal disease in humans. The most common symptoms of Gaucher disease is bone pain, fatigue, enlarged liver, and cognitive disabilities.
(d)
Interpretation:
The nature of defect in GD enzyme should be determined.
The significance of the increase in activity of the enzyme from the normal cell observed in the presence of the inhibitor should be determined.
Concept introduction:
Gaucher disease is caused due to the mutation in the gene that encodes glucocerebrosidase (GCase), an enzyme that degrades glucocerebrosides. This disease is the most common lysosomal disease in humans. The most common symptoms of Gaucher disease is bone pain, fatigue, enlarged liver, and cognitive disabilities.
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