NBME 21

nbme21/Block 4/Question#13

A 4-month-old boy is diagnosed with a rare ...

Dilated rough endoplasmic reticulum

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submitted by sklawpirt(0),

I think the idea here is simply that one should think about where vesicles are coming from on their way to the golgi complex.

"Two steps forward and one step back." Specfically the question may be referring to a rare craniofacial disorder. an awarenesss of that disease is not necessary. What is necessary is understanding the origin from where vesicles are traficked to the Golgi apparatus.

COPI protein is needed to coat vescles from the RER to send to golgi. Thus, with a mutation in that protein, the packaged proteins that should bleb off and be sent to the golgi, instead accumulate in the RER and dilate it. Thus the answer.

https://www.cell.com/ajhg/pdf/S0002-9297(16)30214-2.pdf

hayayah  pg. 47 on FA got the good visuals!