Which of the following would be strong evidence for a nuclear (rather than mitochondrial) cause of a suspected mitochondrial disease?
Show answer and explanation
Correct answer: Affected fathers passing the disease to their children
If affected fathers transmit the disease to their children, this violates maternal-only mtDNA inheritance — suggesting that a nuclear gene (autosomal or X-linked) is responsible instead of mtDNA.
Keep practicing
More Mitochondrial inheritance questions
- Why might a heteroplasmic mother have both affected and unaffected children when carrying a deleterious mtDNA mutation?
- Which inheritance pattern best describes transmission of mutations in mitochondrial DNA (mtDNA) in humans?
- In a family pedigree for a mitochondrial disease, which of the following patterns is expected if the disease is due to an mtDNA mutation?
- What is “heteroplasmy” in the context of mitochondrial genetics?
- Which phenomenon explains why siblings of the same mother may have different severity of a mitochondrial disorder despite inheriting the sa…
- Which structural feature of human mtDNA distinguishes it from nuclear DNA?