Mitochondrial inheritance · USMLE Step 1

Which of the following scenarios would argue against a strictly maternal mtDNA inheritance model in humans?

  1. Both sexes affected across generations, always through mothers
  2. No transmission from affected fathers to their children
  3. Father-derived mtDNA variants found in some individuals
  4. All children of affected mothers carry the mtDNA variant
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Correct answer: Father-derived mtDNA variants found in some individuals

Occasional reports of paternal mtDNA inheritance challenge the dogma of strict maternal transmission, although such cases may reflect nuclear mitochondrial sequences (NUMTs) rather than true paternal inheritance.

Difficulty: Medium Question 10 of 19

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