Health

Can prokaryotic transplantation technology change the fate of genetic diseases?

2025-07-21   

A research team led by Newcastle University in the UK recently announced that a groundbreaking in vitro fertilization technology, prokaryotic transfer, aimed at preventing the inheritance of mitochondrial DNA diseases, has successfully helped 8 babies to be born healthy. These babies consist of four males and four females, with one pair being identical twins. They were born to seven women carrying high-risk mitochondrial DNA mutations, but none of them showed any signs of mitochondrial disease. This technology transfers nuclear DNA from the mother's fertilized egg to a healthy donor's enucleated egg, thereby avoiding the transmission of pathogenic mutations in the mother's mitochondria to the next generation. The resulting embryo carries both the nuclear DNA of the parents and the mitochondrial DNA of the donor, hence it is called a 'three parent baby'. This technology has attracted global attention since its inception, and according to public reports, it has only been approved in the UK and Australia. The two latest papers published in the New England Journal of Medicine provide detailed records of the reproductive and clinical outcomes of prokaryotic transplantation treatments conducted so far. All babies are born healthy, and the mother's pathogenic mitochondrial DNA mutations are basically undetectable or at extremely low levels, far below the threshold for causing disease. The successful application of technology still requires long-term follow-up of mitochondrial diseases, which may be caused by gene mutations in mitochondria, leading to muscle weakness, epilepsy, developmental delay, organ failure, and even death. Although conventional in vitro fertilization testing can identify most mutations, there is still uncertainty in many cases. This is the reason why technologies related to "three parent babies" have emerged. The team stated in the report that 22 experiments ultimately produced 8 babies, including 1 mother who is still pregnant. They conducted rigorous prenatal monitoring and postnatal follow-up on mothers and infants who received prokaryotic transplantation treatment. The results showed that 6 out of 7 women progressed smoothly during pregnancy, with only one case experiencing a rare pregnancy complication - hyperlipidemia, which was controlled through a low-fat diet. Out of 8 infants, 5 did not detect pathogenic mitochondrial DNA mutations in their blood and urine cells; The mutation levels of the remaining three infants were 5% and 9%, 12% and 13%, 16% and 20%, respectively, far below the 80% level required for clinical onset. During the 18 month follow-up, the mutation levels of the first two children have dropped to undetectable levels. Although three infants experienced some health problems in the early stages, such as transient fright, hyperlipidemia, and arrhythmia, the team believes that these problems are not related to mitochondrial mutations and have been naturally relieved through treatment. They emphasized that follow-up visits will continue, especially for developmental assessments of children under 5 years old, to ensure the long-term safety of this technology. Despite significant achievements, there have been numerous ethical controversies surrounding the "three parent baby" technology, despite ongoing safety discussions and ongoing ethical controversies. Critics are concerned that the technology involves genetic modification of embryos, which may have unknown effects on offspring, and any errors could introduce harmful mutations into the human gene pool. At the same time, they are concerned whether this method will open the door to "manipulating genes" and create "design babies" in the future. Stuart Newman, a professor of cell biology and anatomy at the New York Medical School, believes that "this is very dangerous both biologically and culturally, as it marks the beginning of biological manipulation, whose ultimate goal will not only be to prevent certain diseases, but also to develop customized babies through gene manipulation." The United States has explicitly banned such heritable genetic modification technologies, and annual congressional appropriations bills continue to restrict related clinical research. Dr. Zef Williams from Columbia University pointed out that regulatory authorities in the United States have restrictions on technologies that can cause genetic changes in embryos. It is still uncertain whether this situation will change, as it will depend on evolving scientific, ethical, and policy discussions. The scientific community emphasizes technological security. Robin Lovell Bach, a stem cell and developmental genetics scientist at the Francis Crick Institute in the UK, has focused on the only infant with slightly higher levels of mitochondrial abnormalities. He stated that these abnormal levels are not yet sufficient to trigger disease, but need to be continuously monitored during development. As for the ethical issue that people are most concerned about, Lovell Bachi believes that the amount of DNA donated by donors is "negligible", far lower than the amount of DNA transferred in bone marrow transplantation, and any child born will not have any characteristics of women who donate mitochondria. Dr. Andy Greenfield, a reproductive health expert at Oxford University, believes that this work is a "victory of scientific innovation" that provides the only hope for a minority of women, for whom other methods of avoiding genetic diseases, such as detecting embryos in the early stages, are ineffective. The main author of the paper, Professor Mary Herbert from Newcastle University in the UK, said: 'These findings give us reason to be optimistic. However, it is crucial to have a deeper understanding of the limitations of mitochondrial donation technology in order to further improve treatment outcomes.' Currently, UK regulatory authorities have approved 35 patients to use this technology, each requiring individual case approval. To dispel the shadow of genetic diseases, it is necessary to balance risk and well-being. For families troubled by mitochondrial diseases, this technology brings unprecedented hope. A mother who gave birth to a healthy baby through this technology said, "As parents, our only wish is to give our child a healthy start in life. Science has given us this opportunity. So far, she can still recall the despair of Lily's "world collapse" when she was diagnosed - even doctors couldn't explain the cause and prognosis. She deeply understands the significance of new technologies for families in despair: "This ignites light for those who cannot see hope." Zef Williams concluded that this research will help more couples achieve safe pregnancy, and with scientific progress and policy debates, the "three parent baby" technology may open up a new path for the prevention and treatment of mitochondrial diseases worldwide. Undoubtedly, this technology breaks through the boundaries of ethics and medicine through innovation, carrying both the hope of humanity in fighting rare genetic diseases and the need for continuous monitoring and global collaboration to balance risk and well-being. (New Society)

Edit:XINGYU Responsible editor:LIUYANG

Source:people.cn

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