Embryo Project Encyclopedia Articles

Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers replaced the mitochondrial genes of primate embryonic stem cells via spindle transfer. Spindle replacement, also called spindle transfer, is the process of removing the genetic material found in the nucleus of one egg cell, or oocyte, and placing it in another egg that had its nucleus removed. Mitochondria are organelles found in all cells and contain some of the cell’s genetic material. Mutations in the mitochondrial DNA can lead to neurodegenerative and muscle diseases. Mitalipov and Tachibana used spindle replacement to produce healthy offspring from an egg with mutated mitochondria in rhesus macaques (Macaca mulatta). The experiment showed that spindle transfer eliminated the chance of transmission of mitochondrial diseases from the affected primates to their offspring, offering the potential to eliminate mitochondrial diseases in humans.

In 2009, Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers developed the technology of mitochondrial gene replacement therapy to prevent the transmission of a mitochondrial disease from mother to offspring in primates. Mitochondria contain some of the body's genetic material, called mitochondrial DNA. Occasionally, the mitochondrial DNA possesses mutations. Mitalipov and Tachibana, researchers at the Oregon National Primate Research Center in Beaverton, Oregon, developed a technique to remove the nucleus of the mother and place it in a donor oocyte, or immature egg cell, with healthy mitochondria. The resulting offspring contain the genetic material of three separate individuals and do not have the disease. Mitalipov and Tachibana's technology of mitochondrial gene replacement built on decades of research by different scientists and enables researchers to prevent the transmission of human mitochondrial diseases from mother to offspring.

Between 1953 and 1957, before the Meselson-Stahl experiment verified semi-conservative replication of DNA, scientists debated how DNA replicated. In 1953, James Watson and Francis Crick proposed that DNA was composed of two helical strands that wound together in a coil. Their model suggested a replication mechanism, later termed semi-conservative replication, in which parental DNA strands separated and served as templates for the replication of new daughter strands. Many scientists, beginning with Max Delbrück, questioned Watson and Cricks’ model and suggested new theories for DNA replication. By 1957, three theories about DNA replication prevailed: semi-conservative, conservative, and dispersive replication. Then, Matthew Meselson and Franklin Stahl conducted the Meselson-Stahl experiment, which returned results that supported the semi-conservative theory of DNA replication. The collaboration among scientists that ultimately produced concrete evidence of the DNA replication mechanism furthered both theoretical and physical explanations of genetics and molecular biology, providing insight into how life develops, reproduces, and evolves.