Tiny mitochondria play outsized role in human evolution and disease

From PhysOrg:

MitochondriaMitochondria are not only the power plants of our cells, these tiny structures also play a central role in our physiology. Furthermore, by enabling flexible physiological responses to new environments, mitochondria have helped humans and other mammals to adapt and evolve throughout the history of life on earth. A pioneering scientist in mitochondrial biology, Douglas C. Wallace, Ph.D., synthesizes evidence for the importance of mitochondria in a provocative Perspective article today in the journal Cell. Residing in large numbers outside the nucleus of every cell, mitochondria contain their own DNA, with unique features that “may require a reassessment of some of our core assumptions about human genetics and evolutionary theory,” concludes Wallace, director of the Center for Mitochondrial and Epigenomic Medicine at The Children's Hospital of Philadelphia. Wallace has investigated mitochondria for more than 40 years. In 1988, he was the first to show that mutations in mitochondrial DNA (mtDNA) can cause inherited human disease. His body of research has focused on how mtDNA mutations contribute to both rare and common diseases by disrupting bioenergetics—chemical reactions that generate energy at the cellular level.

Wallace and colleagues previously showed in the late 1970s that human mitochondrial DNA is inherited exclusively through the mother. They then used this knowledge to reconstruct the ancient migrations of women by comparing variation in mtDNA among populations throughout the world. From such studies, scientists have concluded that humans arose in Africa about 200,000 years ago and that only two mtDNA lineages successfully left Africa about 65,000 years ago to colonize the rest of the world.

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