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In humans, mitochondrial DNA (mtDNA) is usually inherited from the mother: the egg supplies the embryo’s mitochondria. A mother can pass mtDNA to children of any sex, while fathers do not pass it on under the usual pattern. Rare claims of paternal transmission have been reported, but later analyses suggest that some apparent cases may instead involve mitochondrial-like DNA embedded in nuclear DNA.
What maternal inheritance means
mtDNA is the small genome located in mitochondria, the structures that help cells produce energy. It is distinct from nuclear DNA, which is stored in the cell nucleus. Because the egg contributes the mitochondria to the developing embryo, mtDNA follows a maternal inheritance pattern in humans. MedlinePlus summarizes the usual rule this way: “Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial variants to their children.” MedlinePlus Genetics: inheritance patterns
This describes transmission of genes in mtDNA, not every condition involving mitochondria. Many proteins that support mitochondrial function are encoded by nuclear DNA, which comes from both parents and can follow other inheritance patterns. A mitochondrial disorder therefore is not necessarily maternally inherited.
How mtDNA moves through a family
Under the usual human pattern, a mother may pass her mtDNA variants to sons and daughters. A son may carry those variants, but ordinarily does not pass them to his children through mtDNA. Daughters may pass their mtDNA to the next generation.
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This pattern describes the route of inheritance, not a guarantee that relatives will have the same health outcome. A family tree alone cannot determine whether a person will develop a condition or how severe it may be.
Why relatives with the same mtDNA variant can differ
Some people carry a mixture of mtDNA sequences, a condition called heteroplasmy. The proportion of a particular variant can differ among relatives, tissues, and over time, including between generations. For a disease-associated variant, its proportion may relate to whether symptoms appear and how severe they are. The effect also depends on the specific variant and tissue; heteroplasmy by itself does not mean someone is ill. Wei and Chinnery, “Inheritance of mitochondrial DNA in humans: implications for rare and common diseases”
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Can mitochondrial DNA come from the father?
A 2018 report by Luo and colleagues proposed biparental mtDNA inheritance in three unrelated multigenerational families. The authors reported heteroplasmy values of 24% to 76% among 17 individuals. Those figures describe the selected people in that study; they are not a measure of how often paternal transmission occurs in the population. Luo et al., “Biparental Inheritance of Mitochondrial DNA in Humans”
One alternative explanation is a NUMT: a sequence derived from mtDNA that has become part of nuclear DNA. Since nuclear DNA is inherited from both parents, a paternal NUMT can resemble paternal mtDNA in genetic analyses. Wei and Chinnery reviewed a whole-genome sequencing analysis of 11,035 parent-child trios in which a similar signal in seven trios was attributed as likely to paternally transmitted NUMTs. This is an observed study signature and its interpretation, not a rate of genuine paternal mtDNA inheritance. Wei and Chinnery, 2020
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A later review concluded that studies using complementary techniques did not support paternal mtDNA transmission and highlighted co-amplification of rare, concatenated nuclear mtDNA segments as a possible technical explanation for earlier observations. That is the authors’ synthesis; it does not establish that every conceivable rare case has been ruled out. The reviewed evidence characterizes genuine paternal transmission in humans as highly unlikely and, if it occurs, exceptionally rare. No population-level frequency for genuine paternal mtDNA transmission is established by these sources. Pagnamenta et al., “Biparental inheritance of mitochondrial DNA revisited”
How inheritance differs in other organisms
Maternal inheritance is common across eukaryotes, but mitochondrial inheritance is not identical in every species. Researchers have described paternal leakage, biparental inheritance, strict paternal inheritance, and doubly uniparental inheritance in some organisms. These species-specific patterns are important in evolutionary biology, but they do not change the usual human inheritance pattern. Breton et al., “Atypical mitochondrial inheritance patterns in eukaryotes”
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What this means for a family’s health risk
General inheritance rules cannot provide a reliable reproductive or health-risk estimate for a particular family. That interpretation depends on the specific genetic finding, the variant’s proportion and distribution, and the family’s clinical context. A genetics professional can help interpret test results and explain what they may mean for relatives.
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