Which term describes a condition in which some cells in a person’s body have mutated mtDNA and others have normal mtDNA, leading to variable expression of a mitochondrial disease?
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Correct answer: Heteroplasmy
Heteroplasmy refers to the presence of both mutant and wild-type mtDNA within the same individual’s cells, leading to variability in which tissues are affected and disease severity.
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More Mitochondrial inheritance questions
- Which of the following features is NOT typical of mitochondrial (mtDNA) inheritance of disease?
- Why does mitochondrial inheritance behave as a single locus rather than following Mendelian segregation rules?
- Which principle explains why rare deleterious mtDNA mutations may be lost in one generation despite being present in the mother?
- Which of the following is a potential challenge when diagnosing mitochondrial diseases using family history alone?
- Which of the following statements about nuclear-encoded mitochondrial proteins and their inheritance is correct?
- Which mitochondrial feature makes mtDNA a useful tool for tracing human maternal ancestry over many generations?