Non-nbme question 2 - alina972

[ArchivalUser]

You are asked to present a grand rounds seminar on the role of abnormal proteins in disease. In this connection, intracellular accumulation of an abnormally folded protein plays a role in the pathogenesis of which of the following diseases?

(A) AAamyloidosis
(B) AL amyloidosis
© α1-Antitrypsin deficiency
(D) Gaucherdisease
(E) Tay-Sachs disease

[ArchivalUser]

CCC?

thanks for the questions

[ArchivalUser]

EE

[ArchivalUser]

Abnormally folded proteins are seen in alpha1-antitrypsin deficiency, so answer is C.

[ArchivalUser]

Aren't beta pleated sheets abnormally folded proteins ?

UW QId 94 calls them abnormally folded specifically .

@ alina can you explain this a bit more for me please, I am confused

[ArchivalUser]

@djdlbhp, you are right, amyloidosis (beta pleated sheats that you are referring to) are essentially abnormally folded proteins but they are seen extraceluraly. The question here asks for intracellular accumulations.

[ArchivalUser]

Thanks .missed that point .