Our current understanding of the mitochondrial genome was revolutionized in 2015 with the discovery of short open reading frames (sORFs) that produced protein products called mitochondrial-derived peptides (MDPs). Interestingly, unlike other proteins produced by the organelle, these MDPs are not directly involved in the electron transport chain but rather serve the role of metabolic regulators. In particular, one of these peptides called MOTS-c has been shown to regulate glucose and fat metabolism in an AMPK-dependent manner. With its capacity to enter the mitochondria and impact gene expression, MOTS-c has also displayed the ability to increase aerobic exercise performance by triggering elevated synthesis of the HO-1 antioxidant. Overall these findings position MOTS-c as a promising treatment for metabolic diseases as well as a potential dietary supplement to boost ATP availability.

Lynn Petra Alexander Sagan Margulis was an American biologist, whose work in the mid-twentieth century focused on cells living together in a mutually advantageous relationship, studied cells and mitochondria in the US during the second half of the twentieth century. She developed a theory for the origin of eukaryotic cells, that proposed two kinds of structures found in eukaryotic cells mitochondria in animals, and plastids in plantsÑwere once free-living bacteria that lived harmoniously and in close proximity to larger cells, a scenario called symbiosis. Margulis proposed that the larger cells eventually engulfed the free-living bacteria, resulting in cells living inside other cells, a situation called endosymbiosis. Margulis'theory became called the serial endosymbiosis theory (SET). Her work contributed to explanations of the evolution and development of life, as eukaryotic cells comprise most multicellular organisms, including their embryos.

In 1987 Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson published Mitochondrial DNA and Human Evolution in the journal Nature. The authors compared mitochondrial DNA from different human populations worldwide, and from those comparisons they argued that all human populations had a common ancestor in Africa around 200,000 years ago. Mitochondria DNA (mtDNA) is a small circular genome found in the subcellular organelles, called mitochondria. Mitochondria are organelles found outside of the nucleus in the watery part of the cell, called cytoplasm, of most complex cells (eukaryotes). Cann, Stoneking and Wilson collected mtDNA from 147 individuals from five different human geographical populations. Cann, Stoneking, and Wilson used mtDNA sequences to study the genetic differences and migration patterns of the human population through female inheritance. Mammals inherit mitochondria and mtDNA from their mothers through the egg cell (oocyte), and mitochondria are responsible for several maternally inherited diseases.

Mitochondrial DNA (mtDNA) is located outside the nucleus in the liquid portion of the cell (cytoplasm) inside cellular organelles called Mitochondria. Mitochondria are located in all complex or eukaryotic cells, including plant, animal, fungi, and single celled protists, which contain their own mtDNA genome. In animals with a backbone, or vertebrates, mtDNA is a double stranded, circular molecule that forms a circular genome, which ranges in size from sixteen to eighteen kilo-base pairs, depending on species. Each mitochondrion in a cell can have multiple copies of the mtDNA genome. In humans, the mature egg cell, or oocyte, contains the highest number of mitochondria among human cells, ranging from 100,000 to 600,000 mitochondria per cell, but each mitochondrion contains only one copy of mtDNA. In human embryonic development, the number of mitochondria, the content of mtDNA in each mitochondrion, and the subsequent mtDNA activity affects the production of the oocytes, fertilization of the oocytes, and early embryonic growth and development.

James M Cummins published 'The Role of Maternal Mitochondria during Oogenesis, Fertilization and Embryogenesis' 30 January 2002 in Reproductive BioMedicine Online. In the article, Cummins examines the role of the energy producing cytoplasmic particles, or organelles called mitochondria. Humans inherit mitochondria from their mothers, and mechanisms have evolved to eliminate sperm mitochondria in early embryonic development. Mitochondria contain their own DNA (mtDNA) separate from nuclear DNA (nDNA). Cummins's article describes how mitochondria influence the development of egg cells called oocytes. Mitochondria also function in the union of oocyte and sperm, early formation of the embryo, and in in vitro fertilization (IVF) techniques, such as the transfer of donor cytoplasm into an oocyte resulting in a technique called ooplasmic transfer.

Allan C. Wilson studied genes, proteins, and body structures of animals and humans in the US during the second half of the twentieth century. Wilson also studied human evolution. Although morphology and behaviors of humans (Homo sapiens) and great apes differ, Wilson found that they have biochemical and genetic similarities. Wilson and his colleagues calculated the time period of humans' and African apes' common ancestor. Wilson and his team also studied DNA outside of the nucleus in the cellular energy producing particles, called mitochondrial DNA (mtDNA), to study when different human groups evolved from each other.

Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen. When mitochondria fail to fulfill those functions properly in the cell, many different maladies, including death, can occur. Humans inherit mitochondria from the mother through the egg cell, and all the mtDNA molecules in a person are identical to each other. But the mutation rate is much higher in the mtDNA than in nuclear DNA, and some individuals may have more than one type of mtDNA. As egg cells develop, they divide via a process called meiosis. As egg cells divide, mitochondria of different types can randomly segregate in some new cells but not in others. As a result, two offspring from the same female might differ in their types of mitochondria. Random amounts of the two mitochondria types can lead to some offspring inheriting a mitochondrial disease or developmental abnormalities while others are normal.