New information about how hard-to-treat genetic diseases are inherited

Opinions

Date: 30.03.2021

A new study by scientists at 23andMe, the Hospital for Sick Children (SickKids), and the University of Toronto offers insight into how the nuclear genome controls the emergence of mutations in mitochondrial DNA. 

Published in Scientific Advances, the new findings will help researchers studying serious mitochondrial diseases.

“Mitochondrial diseases represent a very large spectrum, and many are fatal,” said Neal Sondheimer, M.D., Ph.D., principal investigator of the study and Staff Physician in Clinical and Metabolic Genetics at SickKids. “With a better understanding of how mitochondrial variants emerge, we can explore new possibilities for the prevention or possibly the treatment of disease.” 

We often refer to genetics as if each person has one genome, but we all actually have two genomes – the nuclear genome and mitochondrial genome.

The mitochondrial genome (known as mtDNA) is uniquely inherited only from our mother. It operates under separate rules for inheritance and repairs to its structure. Mitochondria act like tiny cellular power plants in our bodies. Even though mtDNA represents just a small fraction of our DNA, they have outsized importance. Even small differences in mtDNA can cause serious mitochondrial diseases. Those differences may have a significant impact on such things as Alzheimer’s disease, aging, autism, preterm birth, and more. 

The article was prepared based on the information: 23andMe

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