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Mitochondria in human offspring derived from ooplasmic transplantation
J A Barritt1, C A Brenner, H E Malter
1Gamete and Embryo Research Laboratory, Institute for Reproductive Medicine and Science of Saint Barnabas, West Orange, New Jersey 07052, USA.
Human Reproduction (Oxford, England)
|March 3, 2001
Summary
Mitochondrial DNA heteroplasmy was detected in children born after ooplasmic transfer, a fertility technique involving donor cytoplasm. This genetic modification resulted in healthy offspring, marking a significant advancement in assisted reproduction.
Area of Science:
- Reproductive Medicine
- Genetics
- Mitochondrial Biology
Background:
- Ooplasmic transfer, a fertility treatment, involves donating cytoplasm from a donor egg to a patient's egg.
- Concerns exist regarding potential mitochondrial (mt) heteroplasmy due to mixing of maternal genetic material.
- This technique has resulted in the birth of approximately 30 babies globally.
Purpose of the Study:
- To investigate the presence and persistence of donor mitochondrial DNA (mtDNA) in offspring following ooplasmic transfer.
- To assess the safety and implications of human germline genetic modification through cytoplasmic transplantation.
Main Methods:
- Donor ooplasm containing active mitochondria was transferred into recipient oocytes.
- Mitochondria were visualized using confocal microscopy post-fertilization.
- mtDNA fingerprinting was employed to trace the mitochondrial donor population in children's blood.
Main Results:
- Mitochondrial heteroplasmy, the presence of both recipient and donor mtDNA, was confirmed in the blood of two 1-year-old children.
- The study successfully traced the donor mitochondrial population throughout the ooplasmic transfer process and in the offspring.
Conclusions:
- Ooplasmic transfer can lead to heteroplasmy in the human germline.
- This genetic modification resulted in the birth of healthy children, indicating the technique's potential viability.
- This represents the first documented case of human germline genetic modification yielding healthy live births.