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Clinical study provides new test to predict which women could benefit from mitochondrial donation.

By Dr Lyndsey Butterworth

Researchers have found a way to predict the risk of having a child affected by mitochondrial disease. The test will help guide reproductive choices for women who carry faulty mitochondrial DNA and wish to try for their own healthy child.

A team from the Wellcome Centre for Mitochondrial Research (WCMR) at Newcastle University, who pioneered the development of mitochondrial donation to prevent transmission of mitochondrial disease, have published their findings in the New England Journal of Medicine (NEJM). They show for the first time that it is possible to predict the risk of having a child who could develop serious mitochondrial disease by looking at the level of faulty mitochondrial DNA in the mother’s blood.

Mitochondrial donation was legalised in the UK in 2015 and is regulated by the Human Fertilisation and Embryology Authority (HFEA). The HFEA considers applications by patients on an individual basis and treatment is permitted only for patients at substantial risk of transmitting serious mitochondrial disease.

Patients, doctors and regulators have, until now, had to rely on tests which can fail to provide the conclusive evidence required.

Lead author, Dr Sarah Pickett from the WCMR (pictured above), said: “Mitochondrial donation offers affected couples in the UK the chance of having healthy children. This research provides a way to predict the risk of women having children with serious mitochondrial disease. We haven’t been able to do this until now. It is a major step forward in providing reproductive advice to patients, allowing couples to make more informed choices when planning their families.”

Researchers looked at levels of faulty mitochondrial DNA in blood samples from over 100 mothers and compared these to the levels in their children. By doing this, they were able to predict the likely outcome for any children born to women who carry the same fault in their mitochondrial DNA.

Dr Gráinne Gorman, a Consultant Neurologist and Principal Investigator in the WCMR, said “The discovery comes at an important time for the clinical application of mitochondrial donation. Following approval in the UK, we are taking a carefully considered approach when it comes to translating the novel IVF treatment into clinical practice. This has included working closely with NHS England and patient groups to develop an integrated care pathway for women whose children are at risk of serious mitochondrial disease”.

Dr Gorman added, “Despite increasing reports of similar techniques being performed around the world, the Newcastle team are keen to ensure that mitochondrial donation is offered when it is the most appropriate option to prevent transmission of mitochondrial disease. The results of our study will help make sure mitochondrial donation is made available to those women who are most likely to benefit “.

To read the full article please click here.

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