Mitochondrial Disease, Down on Your Knees!

IVFA new approach to in vitro fertilisation, which aims to combat inherited mitochondrial disease has received UK government backing. With draft regulations currently in production, the procedure utilising DNA from three individuals could be in use by 2015.

Maintained exclusively down the maternal lineage, these diseases stem from defects within mitochondrial DNA (mtDNA); found within cellular structures known as mitochondria – dubbed the cells ‘powerhouses’, they function to provide the body with more than 90% of it’s energy. With 1 in every 6,500 newborns being born with mitochondrial defects, 10 couples are set to benefit annually from three person IVF. Developed in the seventies, in vitro fertilisation is the creation of an embryo outside of the womb. For couples considered to be ‘at a higher risk’ of genetic disease, techniques such as preimplantation embryonic screening, aid the segregation of healthy embryos from those with chromosomal abnormalities, to maximise the potential success of the IVF cycle; couples tend to find the reality of IVF, an emotionally, physically and financially draining series of repetitions. With 70% of embryos lost to genetic defects, it seems the support for three person IVF couldn’t have come sooner, yet, fears have arisen that any leniency towards genetic modification of a human being may begin to
culminate in the nonsensical abuse of the science, that is, down the ‘slippery slope’ to eugenics.

Dr David King, Human Genetics Alert, warns of the ‘slippery slope whilst talking on the bbc – ‘The biggest concern is once we cross this crucial ethical line, which says that we shouldn’t create babies that have been genetically altered then it becomes very difficult… we will eventually get to this future that everyone want to avoid of designer babies.’

Pioneered at Newcastle University, three person IVF effectively does what is says on the tin; the mother’s defective mitochondrial DNA is replaced with the healthy DNA of a female donor via egg or embryonic modification. 20,000-30,000 genes from the mother and father, 37 mitochondrial genes from the donor; ~ 0.1% genetic alteration to the child’s germ line sees future generations set to inherit the donor DNA.

The progressive inherited neurometabolic Leigh’s disease which holds a prognosis of rarely more than 5 years for infants, is one of a number of disease which may be tackled by three person IVF – in this light tar-ing the procedure as unethical hardly seems fair. It could be argued that denying people the toolkit from which to build a potential healthy future, redirected away from generations of genetic abnormalities is inexcusable, especially when stringent rules and regulations are being created, as well as monitored, by the HFEA (Human Fertilisation and Embryology Authority).

Prof Dame Sally Davies, chief medical officer for England – ‘Scientists have developed ground-breaking new procedures which could stop these disease being passed on, bringing hope to many families seeking to prevent their future children inheriting them… It’s only right that we look to introduce this life-saving treatment as soon as we can.’

We truly are in the enviable position of watching this story unfold before our very eyes. Despite inevitably bringing with it a number of social, ethical and clinical implications, for families with mitochondrial disease this may the *‘excellent news’ they have been waiting for.

*Prof Doug Turnbull, the director of the Wellcome Trust Centre for Mitochondrial Research at Newcastle university.

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About Sumaya Anwar

Sumaya Anwar is a student of biological sciences at UCL, with a special interest in genetics. Having previous experience as a broadcast journalist, producer and researcher, she now actively works as a presenter and writer. An outgoing, sociable person, she is always interested in finding out others opinions in the pursuit of seeing an issue from every angle. This is reflected in her writing, with a versatile style that would suit a multitude of different topics. Holding a strong belief that a combination of ambition and hard work make anything possible, Sumaya perseveres to make science assessable as well as understandable to everyone.
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