HELP ANSWERING BELOW. The protein you studied (Beta-Glucocerebrosidase protein)
ID: 176499 • Letter: H
Question
HELP ANSWERING BELOW.
The protein you studied (Beta-Glucocerebrosidase protein) is involved in a complex of proteins that work together to perform a function (all of the proteins studied have multiple subunits, which work together to perform a function). Could mutations in any of these proteins lead to your disease as well? (disease - Gaucher’s Disease)
Ideas to consider:
Glucocerebrosidase interacts with itself in a complex- if glucocerebrosidase could no longer interact with itself, could that lead to Gaucher disease? If glucocerebrosidase could no longer bind its metabolite (glucocerebroside), could this lead to Gaucher’s disease?
How would these possible changes lead to the disease (if they would still)? If they would not lead to the disease still, explain why. Consider at least 2 possibilities listed for your disease (Gaucher’s Disease).
Explanation / Answer
Gaucher’s disease is cause due to a genetic deficiency of enzyme glucocerebrosidase. Thus, the substrate of the enzyme glucocerebroside accumulates in the cell.
Answering to the first question; yes, a mutation in the enzyme which renders it non-functional will lead to Gaucher’s disease.
Answering to the second question;
-enzyme if not able to interact with itself wouldn’t result in the disease form.
-yes, if enzyme not able to bind the substrate, the substrate would accumulate and cause the disease.
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