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

Mutation in octapeptide repeat where 5 repeats are normal but in case of mutation in GPI domain of PrP the octapeptide would be 11 to 13 times. It changes the normal prion protein structure and results in loss of neurological function.

Octapeptide repeat is required to form rod like structure of PrP protein. Function of which is to provide signals for long term memory, control of movement and emotions.

Fehlings test, Benedict test, Barfoed test, Seliwanoff test are used to identify problem in carbohydrates.

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