What is the role of mitochondrial DNA in human inheritance and disease?

Mitochondrial DNA plays a crucial role in human inheritance and disease.

Mitochondrial DNA (mtDNA) is a small, circular genome found in the mitochondria of eukaryotic cells. Unlike nuclear DNA, which is inherited from both parents, mtDNA is inherited solely from the mother. This means that all offspring of a woman will have the same mtDNA sequence as their mother.

Mutations in mtDNA can lead to a variety of diseases, collectively known as mitochondrial diseases. These diseases can affect any organ or tissue in the body, but often affect those with high energy demands, such as the brain, heart, and muscles. Symptoms can range from mild to severe, and can include muscle weakness, vision and hearing loss, seizures, and developmental delays.

Because mtDNA is inherited maternally, it can be used to trace maternal lineages and study human evolution. Scientists have used mtDNA to track the migration of human populations across the globe, and to estimate the time of divergence between different groups.

In conclusion, mtDNA plays a crucial role in human inheritance and disease. Its unique mode of inheritance and susceptibility to mutations make it an important area of study for geneticists and evolutionary biologists alike.