0071509674.pdf

(coco) #1

72.A 25-year-old man presents with Triple A (Allgrove) syndrome includ-
ing the clinical triad of adrenal failure, achalasia, and alacrima. The patient
shows progressive neurological impairments involving cranial nerves IX, X,
XI, and XII, optic atrophy, upper and lower limb muscle weakness, and
Horner’s syndrome. Causative mutations for the disease have been identi-
fied in a gene that encodes the protein ALADIN, a component of the struc-
ture labeled with the arrows in the transmission electron micrograph.
Which of the following would be directly affected by the mutation?


Cell Biology: Nucleus 145

a. Import of macromolecules to the nucleus
b. Reconstitution of the nuclear envelope in telophase
c. Breakdown of the nuclear envelope in prometaphase
d. Condensation of chromatin
e. RNA synthesis

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