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Mitochondrial genomes are found in eukaryotic organisms and carry genetic information separate from the nucleus. They are inherited exclusively from the mother and have a high mutation rate. Mitochondrial genome sequencing can provide insights into heredity and evolutionary history, as well as help understand mitochondrial disorders. Public databases provide useful information for researchers in fields such as gene therapy and embryonic diagnosis.
A mitochondrial genome is a collection of genetic information carried in mitochondria, organelles found in the cells of eukaryotic organisms such as humans and other complex animals. This DNA is separate from that carried on the chromosomes in the cell nucleus, which makes up the majority of the overall genome of the organism. Researchers exploring genetic inheritance have sequenced the mitochondrial genomes of a number of organisms, including humans, to glean insights into this rather unique aspect of genetics.
Several characteristics distinguish the mitochondrial genome from other genetic material in the body. First of all, it is inherited exclusively from the mother, which can have useful implications for tracking generational changes, relationships and heredity. Furthermore, it has an unusually high mutation rate relative to the chromosomal genome. Furthermore, they are believed to be trace amounts of DNA from organisms that were once completely independent and later absorbed by the first living cells to provide symbiotic benefits.
37 genes are carried in the mitochondrial genome. They carry information that the mitochondria use to perform their primary function, which is the generation of energy for cellular activities. Mitochondria can make several key proteins, transfer RNA and ribosomal RNA using the blueprints found in their DNA. Mitochondrial genome sequencing can provide useful clues about heredity not only within species, but throughout evolutionary history. Researchers, for example, have used this DNA to trace groups of people back to single common ancestors.
The studies may also be important in understanding mitochondrial disorders. These conditions can be caused by mitochondrial DNA errors that erode the function of these important organelles. Without functioning mitochondria, cells may be unable to perform key tasks. In people with Leber’s hereditary optic neuropathy, for example, vision loss occurs from infancy to early adulthood due to malfunctioning mitochondria. Women can pass the disease to their children, but men cannot, because the mitochondrial genome is only carried in eggs, not sperm.
Public databases provide mitochondrial DNA information from an assortment of organisms. These databases can help researchers identify individual genes and allow them to compare genes from healthy and diseased organisms to look for the specific errors in DNA that lead to genetic conditions. Researchers in fields such as gene therapy can use this information to determine if DNA can be repaired to restore function, and can use it for embryonic diagnosis and screening to check for signs of common genetic disorders.
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