Heteroplasmy Essay

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"As many as 4,000 children are born in the U.S. every year with some form of mitochondrial disease, which can include poor growth, loss of muscle coordination, learning disabilities and heart disease," Peter Sutovsky said, a professor of reproductive physiology at Mizzou who conducted research on Mitochondrial irregularities with his partner, Won-Hee song, at Proceedings of the National Academy of Sciences (PNAS). These diseases are usually caused by heteroplasmy, or an incorrect inheritance of mtDNA (Mitochondrial DNA). To understand heteroplasmy, first one must know that when DNA is inherited from each parent, the female parents gives the mtDNA, while the male mtDNA is discarded. Heteroplasmy is when there's an irregularity in this process, when both the father and the mother give their mtDNA to the zygote. …show more content…
Think of a cell that has replicated it's DNA and not divided. The cell will ultimately function incorrectly and cause problems to the surrounding cells, and ultimately for the entire body. The mitochondrial diseases are just this, but scaled down to mitochondria. Heteroplasmy makes it incredibly more difficult for Mitochondria to function. We cannot simply find a cure for these diseases, for there are millions of Mitochondria in our bodies and no way to fix them all. So the alternative: stop it before it even happens. Peter and Song recreate heteroplasmy in pigs in order to more thoroughly study it's nature. They identified the proteins responsible for removing male mtDNA, SQSTM1 and valosin-containing proteins (VCP). They tried inhibiting one of the two proteins, but the other still managed to delete the male mtDNA. On the contrary, when they inhibited both proteins, the male Mitochondrial DNA stayed within the embryo. Sutovsky said, "This research is important because we now know for sure what processes lead to the deletion of paternal mitochondrial DNA from

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