27th February 2024

Mitochondrial

Mitochondrial disorders are unique due to mitochondrial DNA mutations acting as the driver for the phenotype. Mitochondrial DNA displays high mutation rates, and mutant mitochondria populations can vary between cells and tissues, resulting in significant variability in phenotypic expression between affected individuals.

Mitochondrial conditions typically show an exclusive maternal inheritance because embryonic mitochondria are derived from the ovum. Male and female children are equally affected. An affected male will not pass the condition to any children.

Image Source: Wikimedia Commons (2019). Maternal Inheritance – mitochondrial DNA, Licensed under a creative commons licence. Available for free at: https://upload.wikimedia.org/wikipedia/commons/7/76/Maternal_Inheritance_-_mitochondrial_DNA.png (Accessed: 5 January 2024).