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Mitochondrial DNA sometimes comes from fathers

In a pioneering study rewriting textbooks, scientists found evidence of patrilineal inheritance of mitochondrial DNA. Until recently, it was thought that mtDNA could only be inherited from mothers.

In a pioneering study rewriting textbooks, scientists found evidence of patrilineal inheritance of mitochondrial DNA. Until recently, it was thought that mtDNA could only be inherited from mothers.

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<strong>Mitochondrial</strong> <strong>DNA</strong> <strong>sometimes</strong> <strong>comes</strong> <strong>from</strong> <strong>fathers</strong><br />

In a pioneering study rewriting textbooks, scientists found evidence of<br />

patrilineal inheritance of mitochondrial <strong>DNA</strong>. Until recently, it was thought that<br />

mt<strong>DNA</strong> could only be inherited <strong>from</strong> mothers.<br />

Life is made up of millions of cells, and cells are made up of tiny functional<br />

components called organelles. Mitochondria is a kind of organelle, which plays an<br />

extremely important role in the normal operation of cells. Mitochondria, also known<br />

as the "power station" of cells, produce chemical energy called ATP, which is<br />

necessary for all biological processes in the body. Most of our <strong>DNA</strong> is stored in the<br />

nucleus, but some are stored in mitochondria, called mitochondrial <strong>DNA</strong> (mt<strong>DNA</strong>).<br />

Although in some species, such as flies and lice, mt<strong>DNA</strong> can also be inherited <strong>from</strong><br />

<strong>fathers</strong>, mitochondrial <strong>DNA</strong> is known to come only <strong>from</strong> mothers in humans. On the<br />

other hand, nuclear <strong>DNA</strong> is inherited equally <strong>from</strong> both parents, meaning that<br />

children will inherit 50% of nuclear <strong>DNA</strong> <strong>from</strong> each parent.<br />

Like most cells, sperm contain many energy-producing mitochondria. Once the<br />

sperm is fertilized by the egg, the mitochondria of the sperm break down in the<br />

organelle membrane.<br />

But the new study, led by geneticist Taosheng Huang, at the Children's Hospital<br />

Medical Center in Cincinnati, turns down the common-sense view. The study began<br />

in a four-year-old boy who developed symptoms of mitochondrial disorders. When<br />

Huang and his colleagues tested the boy, they were surprised to find that their<br />

mitochondrial <strong>DNA</strong> appeared to contain ingredients <strong>from</strong> their <strong>fathers</strong>. Of course,<br />

this may seem impossible, but subsequent tests yielded the same results. When<br />

evidence was found that the boy's sister and mother also had this heterogeneity<br />

(multiple mitochondrial <strong>DNA</strong> variants <strong>from</strong> a single cell genomics source), Huang<br />

knew he had discovered a new situation.<br />

The researchers then sequenced the mt<strong>DNA</strong> of the boy's grandparents and<br />

found that 60 percent and 40 percent of her mother's mt<strong>DNA</strong> came <strong>from</strong> her mother<br />

and her father, respectively. Overall, the researchers found mitochondrial <strong>DNA</strong><br />

heterogeneity in three unrelated multigenerational families (17 individuals), ranging<br />

<strong>from</strong> 24% to 76%. According to the study, the probability of this phenomenon is 1 in<br />

5000 people.<br />

The researchers were careful to point out that maternal inheritance in mt<strong>DNA</strong><br />

remains the norm, and these results are exceptions to this rule. However, it is not<br />

clear what the proportion of such exceptions is. For example, the sequencing of<br />

genes that had previously been found to be patrilineal in mitochondrial <strong>DNA</strong> was<br />

thought to be wrong. These new findings suggest that they may not be just wrong.<br />

Scientists are not sure how this patrilineal mt<strong>DNA</strong> permeates the embryo. What<br />

they have determined is that this must be a genetic trait, especially since the<br />

patient's mitochondria seem to have no defects. Whatever causes the father's<br />

mitochondrial <strong>DNA</strong> to pass on to the offspring, it is likely to be a mutation in the<br />

nucleus, because the <strong>DNA</strong> in the nucleus <strong>comes</strong> <strong>from</strong> both parents.


In the future, researchers will pay close attention to cases of human<br />

heterogeneity. What's certain is that our view of genetic heredity has expanded so<br />

much that we can't tell where the discovery can take us. From new gene therapy to<br />

the evolution of our species, we don't know how far that can go.<br />

Link:<br />

https://medium.com/@wyzandrea/mitochondrial-dna-<strong>sometimes</strong>-<strong>comes</strong>-<strong>from</strong>-fathe<br />

rs-46e9db155b34

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