Mitochondrial replacement therapy

Mitochondrial replacement therapy uses an egg or embryo with nuclear DNA from intended parents and mitochondria from a donor to reduce transmission of mitochondrial DNA disease.

Maternal spindle transfer: An assisted-reproduction method that transfers the mother’s chromosome-containing spindle into an enucleated donor egg before fertilization. This method moves nuclear DNA before fertilization, limiting exposure to the mother’s mitochondria.
Mitochondrial disease: A group of disorders caused by impaired mitochondrial function, often involving mutations in mitochondrial or nuclear genes. Preventing transmission of mitochondrial DNA mutations is the therapy’s principal medical purpose.
John Gurdon: A British developmental biologist whose nuclear-transfer experiments helped establish that differentiated cells retain genetic information for development. Nuclear-transfer research supplied experimental foundations for moving parental chromosomes between eggs.
Germline editing: A genetic intervention that alters reproductive cells or embryos in ways that can be inherited by future generations. Mitochondrial replacement can produce heritable changes in mitochondrial DNA inheritance, prompting related oversight debates.
Pronuclear transfer: An assisted-reproduction method that transfers pronuclei from a fertilized egg into a donor zygote whose pronuclei were removed. This method replaces mitochondria after fertilization by moving the parents’ pronuclei.
Leigh syndrome: A severe progressive neurological disorder often caused by genetic defects affecting mitochondrial energy production. Some families at risk of severe mitochondrial disease consider reproductive options such as replacement.
Shoukhrat Mitalipov: A reproductive biologist known for research on mitochondrial replacement and human embryonic development. His laboratory reported influential experiments adapting spindle transfer to human eggs.
Three-parent baby: A colloquial label for a child born after mitochondrial donation, with nuclear DNA from two people and mitochondrial DNA from a donor. The phrase captures public debate but can mislead about the donor’s limited genetic contribution.
Mitochondrial bottleneck: A sharp reduction in mitochondrial genome copies during germ-cell development that can cause large shifts in variant proportions. It helps explain why residual disease-associated mitochondria can produce unpredictable outcomes across generations.
Leber hereditary optic neuropathy: An inherited mitochondrial disorder that causes central vision loss, usually in young adults. Its mitochondrial inheritance illustrates a disease for which transmission risk may be considered.

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