The CHOP PediSeq Project

The Pediatric Clinical Sequencing Project

Mitochondrial Inheritance

People with mitochondrial disease carry a mutation in a gene that affects the way their mitochondria work. These genes may be located in DNA within the cell’s nucleus or in the mitochondrial DNA. Mitochondria are structures in cells that are located outside the cell’s nucleus. They produce energy for our cells. Mitochondria have their own DNA that is different from the DNA present in a cell’s nucleus.

Mitochondrial inheritance refers to inheritance of those genes that are located in the mitochondrial DNA. Individuals with mitochondrial DNA mutations may be male or female. Mitochondrial DNA is present in the eggs but not in the sperm. This means that only women pass on mitochondrial DNA mutations to their children. All of a woman’s mitochondria may not carry a mitochondrial DNA mutation. Therefore, all children of a woman who carries a mitochondrial DNA mutation may not inherit the mutation and develop the condition. A male with a mitochondrial DNA mutation will not pass the condition to his children. The diagram above shows how mitochondrial inheritance occurs.




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