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NBME 11 blk 1 - beejan
#1
35 y/old man comes to the physician for follow up examination.He has a 10 yrs history of bradykinesia,tremmors,and rigidity consistent with Parkinsons disease,his parents are in their late 50s and have no symptoms of parkinson disease,he as no sibling. Genetic analysis shows 2 loss of function mutations in parkin gene,which encodes a ubiquitin protein ligase. Which of the pathalogical prosesses is most likely to occur in this patient as a result of these mutation?

a.. Absence of neuronal proteosomes
b.. Accumulation of aggregated protein within the cytoplasm of neurons
c.. Excess dopamenergic neurons in basal ganglia
d.. Increased protein aggregates within the nucleus of neurons
e.. Proliferation of pigmented neurons in substentia nigra



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#2
E....?
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#3
I think its B.Ubiquination takes place in the proteosomes i.e misfolded proteins get flagged in the proteosomes to be destroyed.If there is no ubiquination then probably the protiens would accumulate in the cytoplasm.
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