According to the results published in the New England Journal of Medicine, the pioneering IVF technology is used to prevent the spread of devastating mitochondrial diseases.
The treatment developed in the UK, called nuclear transfer or “mitochondrial donation”, involves transferring nuclear DNA from parents to donor eggs, creating embryos from the genetic material of three people – effectively providing children with healthy mitochondria while retaining the basic characteristics of the parents.
All eight children, including a group of identical twins, show no signs of mitochondrial DNA disease and are reaching normal developmental milestones. The baby is born in seven women and has a high risk of severe genetic conditions that may affect the heart, brain and muscles.
Prevent genetic energy production barriers
Mitochondrial disease affects about 5,000 children and is caused by DNA mutations in the mitochondria (the powerful chamber of cells that produce life energy). These maternal inheritance diseases can lead to devastating symptoms including vision loss, heart problems, muscle weakness and delayed development, and there are currently no treatments available.
The Newcastle University team has developed nuclear metastasis as a way to break the cycle of hereditary mitochondrial disease. This technology transplants the nuclear genome containing the individual characteristics of the parents into donated eggs with healthy mitochondria, ensuring that the child inherits the characteristics of the parents when receiving the cellular components of functional energy energy.
“As parents, all we want is to give the child a healthy life. Mitochondrial donation of IVF makes this possible,” said a mother of a baby girl. “After years of uncertainty, this treatment brings us hope and then to our children.”
Encourage early results to show therapeutic effectiveness
The research team is led by Newcastle University and the NHS Foundation Trust, Newcastle Hospital, from birth to current age from birth to infants. Mitochondrial DNA mutations that cause the disease are undetectable, either at very low levels, below the 80% threshold usually required to present clinical symptoms.
In five infants, no undetected mutations that cause the disease were detected. The three infants had blood and urine samples ranging from 5% to 20%, but they were still well below the risk threshold. It is worth noting that a child with an initial test showing a level of 5-9% mutation later showed undetectable levels at 18 months of follow-up.
Clinical outcomes and health monitoring:
- Eight babies were born healthy and had normal birth weight
- All children reach development milestones during follow-up
- Five babies cannot detect mutations in the disease
- Three infants with low mutation levels below disease threshold
- Established a comprehensive 18-month development monitoring plan
Secondary health issues not related to treatment
The researchers believe that the three children experienced a smaller health condition and were not related to the mitochondrial donation procedure. A baby had a short period of muscles and was resolved without treatment three months later. Another child’s blood fat was increased, successfully managed through dietary changes, and he used drugs to treat abnormal heart rhythm. The third child experienced a urinary tract infection and responded quickly to antibiotics.
Professor Bobby McFarland, Director of the NHS’s Highly Professional Services, stressed the importance of continuing monitoring: “While long-term follow-up of children born after mitochondrial donation is critical, these early results are very encouraging, but these children bring such joy and relief to their parents.”
Resolve technical limitations
The technology faces known limitations, called “carrier-forward”, in which certain parent mitochondrial transfers are transferred together with nuclear DNA. This explains why some babies still have low levels of disease-causing mutations, although considered safe at the same time.
Professor Mary Herbert, lead author of the Reproductive Results Study, acknowledged: “Due to maternal decline in mitochondrial DNA during mitochondrial donation, mitochondrial donation technology is currently viewed as a risk-reducing treatment. In our ongoing study, our ongoing study attempts to make up for the difference by reducing risk basis.
The technology achieved clinical pregnancy in 36% of patients receiving pre-nuclear metastasis, compared with 41% of patients receiving pre-implantation genetic testing, an alternative approach for women with lower mutation levels.
Global reproductive medicine pioneers
After extensive public debate and scientific reviews, the UK became the first country to legalize mitochondrial donations in 2015. Newcastle Fertility Centre received its first clinical license in 2017, and Australia subsequently changed its law to allow the technology.
Professor Doug Turnbull, a member of the Newcastle team, emphasized the broader significance: “Mitochondrial disease can have a devastating impact on families. Today’s news offers new hope for more women who may have the risk of passing the disease in this situation, and they now have the opportunity to let children grow without this terrible disease.”
The study continues, with plans to follow children until the age of five, providing vital long-term safety data for this pioneering reproductive technology and providing new hope for families affected by mitochondrial disease.
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