by-Chapter Questions & Verified Solutions
Robbins & Cotran Pathologic Basis of Disease
10th Edition
• Author(s)Vinay Kumar; Abul K. Abbas; Jon C. Aster
Multiple-Choice Questions: Cellular Pathology
1.
• Chapter & Section: Chapter 1: The Cell as a Unit of Health
and Disease / The Genome
• Stem: A patient is diagnosed with a disorder caused by a
missense mutation in a single gene. Which type of genetic
variation most directly explains this specific amino acid
change in the resulting protein?
• Options:
A) A copy number variation (CNV) affecting a large
chromosomal region.
B) A single nucleotide polymorphism (SNP) within an exon.
C) An epigenetic modification silencing the gene promoter.
D) A mutation in a non-coding regulatory region of DNA.
, • Correct Answer: B
• Rationales:
o Correct (B): A single nucleotide polymorphism (SNP)
is a variation in a single DNA building block
(nucleotide). A SNP within a protein-coding exon can
change the codon, leading to the substitution of one
amino acid for another in the protein product, which
is the definition of a missense mutation.
o Incorrect (A): CNVs involve large-scale duplications or
deletions of DNA, typically affecting gene dosage
rather than precisely altering a single amino acid.
o Incorrect (C): Epigenetic modifications change gene
expression levels without altering the fundamental
DNA sequence of the gene itself.
o Incorrect (D): Mutations in non-coding regions can
affect how much protein is made but do not change
the amino acid sequence of the protein.
• Teaching Point: SNPs are point mutations that can directly
alter protein structure by changing the amino acid
sequence.
• Textbook Reference: Robbins & Cotran, 10th Ed., Chapter
1: The Genome (Section on Genetic Variation).
2.
,• Chapter & Section: Chapter 1: The Cell as a Unit of Health
and Disease / Cellular Housekeeping
• Stem: A defect in the ubiquitin-proteasome system is most
likely to lead to cellular injury through which primary
mechanism?
• Options:
A) Impaired degradation of damaged organelles.
B) Accumulation of misfolded or short-lived proteins.
C) Failure to digest phagocytosed extracellular debris.
D) Inability to repair double-stranded DNA breaks.
• Correct Answer: B
• Rationales:
o Correct (B): The ubiquitin-proteasome system is the
primary cellular machinery for targeted degradation
of abnormal (e.g., misfolded) and short-lived
regulatory proteins. Its failure causes toxic
accumulation of these proteins.
o Incorrect (A): Degradation of damaged organelles is
handled by autophagy, not the proteasome.
o Incorrect (C): Digestion of extracellular debris is a
function of lysosomes following phagocytosis.
o Incorrect (D): DNA repair is carried out by specific
enzyme complexes, not the proteasome.
, • Teaching Point: The ubiquitin-proteasome pathway is
essential for clearing damaged and regulatory proteins.
• Textbook Reference: Robbins & Cotran, 10th Ed., Chapter
1: Cellular Housekeeping.
3.
• Chapter & Section: Chapter 1: The Cell as a Unit of Health
and Disease / Cellular Metabolism and Mitochondrial
Function
• Stem: A toxin inhibits cytochrome c oxidase (Complex IV)
of the mitochondrial electron transport chain. What is the
most immediate consequence for the cell?
• Options:
A) Halt of the citric acid (Krebs) cycle.
B) Impaired glycolysis in the cytoplasm.
C) Cessation of ATP production by oxidative
phosphorylation.
D) Failure to transport fatty acids into the mitochondria for
β-oxidation.
• Correct Answer: C
• Rationales:
o Correct (C): The electron transport chain (ETC) creates
the proton gradient necessary for ATP synthase
(Complex V) to produce ATP. Blocking any complex,
including IV, stops the flow of electrons, collapsing the