WASHINGTON (dpa-AFX) - Mitochondria are tiny parts of our cells that make energy, and they have their own special DNA. This DNA is passed only from mother to child. But sometimes, it can have mutations which can lead to serious diseases with no cure in babies.
'It's just such a burden that goes down through the generations of women in these families,' study co-author Mary Herbert said. 'It really is gratifying to be able to do something, to offer some kind of way out.'
To avoid this situation, scientists have been experimenting with a new medical technique called mitochondrial donation, which has recently shown promise in preventing these diseases. In the UK trial, eight babies who were at high risk of inheriting mitochondrial diseases from their mothers were born healthy using this procedure.
The technique, developed by UK scientists, uses the egg and sperm from the biological parents, along with a healthy egg from a donor woman. Most of the baby's DNA comes from the biological parents, and only a tiny amount comes from the donor. This small change may help stop the disease from being passed down.
'To see the relief and joy in the faces of the parents of these babies after such a long wait and fear of consequences, it's brilliant to be able to see these babies alive, thriving and developing normally,' study co-author Prof Bobby McFarland, the director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders told the BBC.
The process is done using IVF. If the mother's eggs don't have too many mutations, doctors may use a technique called PGT (Preimplantation Genetic Testing). But if the mutation levels are high, mitochondrial donation is used.
In this study, scientists used a method called pronuclear transfer. They first fertilized an egg with a sperm, then moved the DNA from that egg into a healthy donor egg that had its own DNA removed. This way, the resulting embryo had the parents' DNA and the donor's healthy mitochondria.
In the trial, 18 babies were born using PGT, whereas, 8 babies were born using mitochondrial donation. All the babies born through mitochondrial donation were healthy and developing normally. Some had no trace of the harmful mitochondrial DNA, while others had very small amounts, too low to cause disease. However, doctors are planning to keep monitoring them to make sure these levels don't increase over time.
'We have cast a wide net for clinical health data reporting on these children and also included a detailed developmental assessment at 18 months,' McFarland said. 'We are in the process of amending the study to look for more subtle developmental problems at 5 years.'
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