#1min4mito Week 7: Mitochondrial DNA defects vs. Nuclear DNA defects

(please forgive us, we are still trying to catch up!! 🙂

This is an important clarification! Many in the medical field hear the word mitochondrial disease and automatically assume that the disease came from the mother and that the genetic abnormality was maternally inherited. This myth comes from the fact that mitochondrial DNA does come only from our mother’s but mitochondrial DNA (mtDNA) is not the WHOLE story when it comes to mitochondrial disease… actually it is only about a quarter of the story! Around 1500 Nuclear DNA genes have been discovered that contribute to mitochondrial disease. Nuclear DNA is the “traditional” type of DNA you learned about in Biology class… one copy from mom and one copy from dad. In the mitochondrial disease world it is turning out that much more of the disease is coming from nuclear DNA abnormalities (75% nDNA) vs. mitochondrial DNA abnormalities (25% mtDNA). 

So what does this mean for you? Well if you or a family member is being tested for mitochondrial disease genetically and a doctor runs an mtDNA genetic test on you and declares from that one test that you do not have mitochondrial disease (despite clinical symptoms that may say otherwise)- then they have only looked at 25% of the puzzle. They need to investigate the other 75% and rule out the possibility of a nDNA defect that may be causing symptoms and disease. And sometimes you need to advocate for yourself /or family member to get them to do just that…keep looking for answers and for healing.



About Empowered Advocacy

www.EmpoweredAdvocacy.com Pediatric Patient Advocate
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