Disease associated with storage of nonfunctional protein – Pathology MCQ

Which of the following disease is associated with storage of nonfunctional protein in hepatocytes?
A. Cystic fibrosis
B. alpha 1 antitrypsin deficiency
C. Tay-Sachs disease
D. Familial hypercholesterolemia

Correct answer : B. alpha 1 antitrypsin deficiency

Alpha 1 antitrypsin deficiency – liver biopsy. PAS with diastase stain demonstrates diastase-resistant pink globules.

• In alpha 1 antitrypsin deficiency, non functional protein is stored in hepatocytes which leads to apoptosis.
• In cystic fibrosis, there is loss of CFTR (Cystic Fibrosis Transmembrane conductance Regulator) which causes defect in chloride transport.
• In Tay-Sachs disease, there is lack of lysosomal enzyme which causes storage of GM2 gangliosides in neurons.
• Familial hypercholesterolemia is characterised by loss of LDL receptor which results in hypercholesterolemia.

Ref: Robbins & Cotran, Pathologic basis of disease, South Asia edition, Vol 1, p58
Image credits: Jerad M Gardner, MD. Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.. https://en.wikipedia.org/wiki/File:Alpha-1_antitrypsin_deficiency.PAS_Diastase.jpg