For the first time, scientists have mapped the genetic activity that takes place when an embryo is formed, showing the exciting way in which the earliest stages of development take place as cells divide and multiply.
Researchers at the Karolinska Institutet in Sweden hope that their findings will be able to offer new insights into the way conception takes place in humans, and possibly form the basis for new infertility treatments.
The scientists involved came from a combination of Swedish and Swiss institutions, and worked in collaboration to provide a wide range of useful skills. The research project was supported by the Karolinska Institutet Distinguished Professor Award, the Swedish Research Council, the Strategic Research Program for Diabetes funding at Karolinska Institutet, Stockholm County, the Jane and Aatos Erkko Foundation, the Instrumentarium Science Foundation, and the Ake Wiberg and Magnus Bergvall foundations.
It has been discovered that out of the 23,000 genes contained within a single person’s DNA, 32 are active two days after conception. At the end of day three, 129 have been activated. Of all the genes mapped, seven were previously undiscovered, and could offer valuable insights into the way in which foetuses develop.
As lead investigator Juha Kere, professor at the Department of Biosciences and Nutrition at the Karolinska Institutet who is also affiliated to the SciLifeLab facility, put it: "These genes are the 'ignition key' that is needed to turn on human embryonic development. It is like dropping a stone into water and then watching the waves spread across the surface."
One of the biggest challenges of the research was working out a way to distinguish useful genes from the large quantities of DNA that serves no known purpose (known as “junk DNA”) that are present within the genome.
Many sequences previously classified as junk DNA have now been shown to play a role in interacting with and stimulating some of the first genes to become active in a newly formed embryo.
Outi Hovatta, the study’s senior author and professor at the Karolinska Institutet's Department of Clinical Science, Intervention and Technology, said: "Our results provide novel insights into the regulation of early embryonic development in human. We identified novel factors that might be used in reprogramming cells into so-called pluripotent stem cells for possible treatment of a range of diseases, and potentially also in the treatment of infertility."
Stem cells are an area of significant scientific interest due to their ability to develop into a wide variety of specialised cells. This means that they could be used to treat a variety of conditions and diseases. The findings have also suggested that stem cells could be an effective treatment for some types of fertility problems.
However, some people are ethically opposed to using them for research or treatment, as extracting the cells from an embryo (the most plentiful source of pluripotent stem cells) destroys the developing foetus.
The potential for genetically engineered pluripotent stem cells would mean that embryos would not need to be destroyed to create them, and many obstacles to their use as a medical treatment could be removed.
Posted by Edward Bartel
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