Mitochondrial disease – new research
What is mitochondrial disease?
Mitochondria are the powerhouses that provide us with energy and are present in almost every cell in the body. Most of a cell's genetic material (DNA) is contained within the nucleus, but a very small amount (less than 1%) is found in the mitochondria.
This mitochondrial DNA is only inherited from the mother ie, via the mother’s eggs.
If the mother’s mitochondrial DNA is faulty then it is possible that the mother may pass to her children one of a number of rare but very serious mitochondrial diseases eg. muscle, cardiac and neural diseases.
What research has been licensed in the UK?
There is currently one embryo research project licensed by the HFEA which is investigating the prevention of mitochondrial disease transmission.
The researchers are using a technique called pronuclei transfer. The technique transfers the egg and sperm pronuclei (the nuclear DNA) from a fertilised egg and inserting it into an embryo which has had its nuclear DNA removed.
This results in an embryo containing nuclear DNA (99% of a cell’s DNA) from the mother and father and mitochondrial DNA (less than 1% of a cell’s DNA) from the egg donor.
What does the law allow?
The Human Fertilisation and Embryology Act 2008, which came into force on 1 October 2009, will continue to permit this type of research. The new law will also allow a number of additional research techniques that may be helpful for researchers investigating techniques to prevent the transmission of mitochondrial diseases.
The law prohibits treatments that involve changing the genetic makeup of an embryo. However, if a safe and effective treatment, designed to prevent the transmission of serious mitochondrial disease, does become possible, then the HFE Act enables secondary legislation to be passed by Parliament to permit its use.
The HFEA would then decide what guidance and other safeguards may be required for clinics wishing offer this treatment.
When will treatments be available?
The HFEA's Scientific and Clinical Advances Advisory Committee have monitored and discussed developments in techniques to prevent the transmission of mitochondrial diseases and will continue to do so
Although research in this area is progressing rapidly, with various techniques being explored, the Committee concluded that treatment would have to be shown to be safe and effective before it becomes available for clinical use.
Page last updated: 27 August 2009