You have a patient that exhibits the beginning symptoms of neurological loss of

Question

You have a patient that exhibits the beginning symptoms of neurological loss of function and decide to sequence the patient’s genome to characterize any genetic markers for disease. You notice a mutation in prion (PrP) protein’s GPI anchor domain.   

A. Describe what mutations would likely cause loss of function (in relation to the GPI anchor and the PTMs of PrP).

B. Describe how you would characterize any problems in the patient’s carbohydrate using biochemistry-based assays.

C. You decide to study the patient’s PrP function in vitro and in vivo. Describe ways you could do that.

D. Propose a function for the octapeptide repeat in PrP.

Explanation / Answer

A, Mutation in the GPI binding domain will cause improper folding of the PrP due to improper post translational modification

B. Multiple amyloid plaques will be found in the patient with PrP disorder due to glycosilation of prion proteins, hence the level of glycoproteins will be higher in CNS

C. For in vitro analysis Immunohistochemistry using prion antibodies can be done, for in vivo assays gene knock out mice models can be used.

D. Octapeptide repeat in PrP will avoid steric hindrance, It also increases the rate of protease resistance.

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