New Test For Epigenetic Abnormalities In Embryos

Scientists in Singapore have developed a novel assay that can detect epigenetic changes in a single cell.

Asian Scientist (Oct. 3, 2013) – Scientists in Singapore have created a novel assay to detect epigenetic changes in embryos.

The breakthrough raises the possibility that therapeutic treatments in the field of assisted reproductive technology (ART) can be developed to correct maternally-inherited epigenetic disease syndromes.

An embryo’s normal development requires certain epigenetic changes to take place during early development. One type of epigenetic change is called ‘DNA methylation’, a crucial process for an embryo’s early development because it selectively ‘switches off’ certain genes – helping its cells grow into different cell types.

Errors in this epigenetic process, such as ‘switching off’ the wrong genes, are known causes of early developmental diseases such as Beckwith-Wiedemann and Silver-Russell syndromes. Beckwith-Wiedemann syndrome causes rapid overgrowth in infants while Silver-Russell syndrome causes slow growth resulting in delayed development and learning disabilities in children.

An important first step to address the debilitating effects of epigenetic diseases is to find a way to identify embryos with ‘troubled’ methylation states.

In a paper published in Science, the scientists described how they used a single cell methylation assay to safely extract and test one cell from an embryo fertilized in vitro for epigenetic abnormalities. Previous assays had required large numbers of cells for testing, which would destroy the embryo.

The scientists were further able to return normal epigenetic functions back to a preimplanted embryo suffering from improper epigenetic development, using a technique called ‘pronuclear transfer’ that takes the genome from a defective embryo and inserts it into a healthy embryo.

The article can be found at: Lorthongpanich et al. (2013) Single-Cell DNA-Methylation Analysis Reveals Epigenetic Chimerism In Preimplantation Embryos.

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Source: A*STAR; Image: Bruno C. Vellutini/Flickr/CC.
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