Cell injury and adaptation: telomere biology: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pathology · Cell injury and adaptation: telomere biology

Sample item

A 12-year-old has premature greying, nail dystrophy and oral leukoplakia, followed by bone marrow failure. The underlying defect is in maintenance of which structure?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. Telomeres

Dyskeratosis congenita is caused by mutations in telomerase components, so tissues with high turnover such as skin, nails and marrow fail from premature telomere shortening.

Option by option

  • A. Centromeres

    Centromere defects cause chromosome missegregation and aneuploidy, not this syndrome.

  • B. Telomeres (correct)

    Correct. Defective telomerase causes early replicative senescence in rapidly dividing tissues.

  • C. Mitochondrial DNA

    Mitochondrial DNA defects cause myopathy and neurological disease with lactic acidosis.

  • D. Nucleolar organiser regions

    Nucleolar organiser regions relate to ribosomal RNA genes and are used as proliferation stains, not a cause of marrow failure.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is B, Telomeres. Dyskeratosis congenita is caused by mutations in telomerase components, so tissues with high turnover such as skin, nails and marrow fail from premature telomere shortening.

Why is "Centromeres" not the answer?

Centromere defects cause chromosome missegregation and aneuploidy, not this syndrome.

Why is "Mitochondrial DNA" not the answer?

Mitochondrial DNA defects cause myopathy and neurological disease with lactic acidosis.

Why is "Nucleolar organiser regions" not the answer?

Nucleolar organiser regions relate to ribosomal RNA genes and are used as proliferation stains, not a cause of marrow failure.

What concept does this question test?

It tests Cell injury and adaptation: telomere biology in Pathology. The correct option holds because: Correct. Defective telomerase causes early replicative senescence in rapidly dividing tissues.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Cell injury and adaptation: telomere biology?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.