Mitochondria are the power plants of cells. Diseases caused by mutations in mitochondrial DNA can have significant impact on cellular function and lead to muscle weakness, heart disease, diabetes, learning disabilities and many more disorders. To prevent passing on mutant mitochondrial DNA from mother to child through the cytoplasm of an affected egg, Daniel Paull, PhD, and Dieter Egli, PhD, of the New York Stem Cell Foundation (NYSCF) and Michio Hirano, MD, and Mark Sauer, MD, at the Columbia University Medical Center developed a novel technique to transfer the nuclear DNA to an enucleated and mitochondrial disease-free egg cell. They found the transfer did not cause any detectable adverse effects on the egg cell nor in stem cell lines derived following the exchange. Their findings demonstrated that nuclear genome transfer could offer an effective solution to prevent the transmission of defective mitochondria in humans. This work was in part supported by a NYSTEM IIRP award to Dr. Egli (C026184).
Paull D, Emmanuele V, Weiss KA, Treff N, Stewart L, Hua H, Zimmer M, Kahler DJ, Goland RS, Noggle SA, Prosser R, Hirano M, Sauer MV, Egli D. Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature. 2013 Jan 31;493(7434):632-7