Mitochondrial Disease Explained For Non-Scientists

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By Glenda McCoy in The Mighty.

 

September is Mitochondrial Disease Awareness Month, and knowledge is power.

Our daughter has mitochondrial complex I deficiency caused by mutations in her NUBPL gene. There are dozens of types of mitochondrial complex I deficiencies, but her particular type is rare. Because there are so many types of mitochondrial complex I disorders and each is different, we sometimes refer to our daughter’s type as “NUBPL,” the name of the gene affected.

When people think of “mitochondria,” many think of DNA from just the mother. This is true only with respect to some of the DNA making up the mitochondria. In fact, they are put together mostly from gene pairs with one gene from each parent (nuclear DNA), plus just a handful involving one gene coming from the mom (mitochondrial DNA). All of our cells (except red blood cells) contain mitochondria. The mitochondria produce the energy our cells need to function, to replicate, and to repair themselves. They are the “powerhouses” of the cell.

 

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Link to Mitochondrial story

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