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How IVF could be causing genetic errors in embryos

ndromes in humans, which are due to aberrant genomic imprinting, and other abnormalities in growth and development in mice have been described after culture in vitro," said Professor Rinaudo. Angelman syndrome is characterised by severe mental retardation, speech impairment, balance disorder and a happy, excitable demeanour; it occurs in about one in 10,000 to 30,000 of the population. Beckwith Wiedeman syndrome is characterised by overgrowth, with an abnormally large tongue, umbilical hernia, neonatal hypoglycaemia and a predisposition to certain tumours, in particular, Wilms tumour and hepatoblastoma; it is rare, occurring in one in 36,000 of the population.

Professor Rinaudo and his colleagues cultured mouse embryos in four media with 5% oxygen. Two of the four media were also used with 20% oxygen, making six different cultures in total. As a control, some embryos were left to mature in the mice (in vivo).

"We identified 38 imprinted genes, most of which showed no difference in expression after in vitro culture compared to the in vivo embryos. Five genes showed a statistical difference compared to the in vivo control, depending on the culture conditions," he said.

The five genes were:

  • Cd81?expresses a membrane protein with unknown function during embryogenesis. It is involved in T cell development (part of the immune system) and the hepatitis C virus binds to it to gain entry to cells.
  • H19 ?a developmentally regulated gene, thought to be a tumour suppressor and associated with Beckwith Wiedeman syndrome.
  • Slc38a4 ?plays a role in amino acid transport to cells.
  • Copg2 ?plays a role in transport of proteins within cells and is associated with Silver-Russell syndrome, a growth disorder occurring in 1 in 75,000 births (involves intrauterine growth restriction and subsequent poor growth).
  • Gnas ?plays a role in cell signalling and is associated with McCune-Albright syndrome (involves bone, hormone and skin
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Source:European Society for Human Reproduction and Embryology


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