A recent study suggested that regardless the health of the parents, any couple could have a child with Apert syndrome, a very rare condition that stops the skull from growing normally.
The findings which were published in the journal of Proceedings of the National Academy of Science (PNAS), it suggested that DNA replication has something to do with Apert syndrome. Researchers said that as father's testes produced sperm, there are some instances that incorrect copies of the sperm can replicate themselves, due to the gene called "FGFR2." And this spontaneous mutation can increase the chances of having a child with the said birth defect.
Talking about the discovery, Professor Anne Goriely, led researcher of the team said that the process that gives rise to Apert syndrome happens in every man, meaning any couple could have a child with Apert syndrome, regardless of the health of the parents. Goriely also said that older men produce more Apert mutation.
Despite its complexity, scientists can still identify which sperm could possibly lead to the disorder in children. And this will allow them to identify mutations associated with different severe diseases including Apert syndrome, autism and dwarfism.
And when asked if the discovery is the first step towards curing severe diseases, Goriely said to International Business Times, "It is probably a little far-fetched at this point in time. Although we can 'light up' the regions that give rise to mutant sperm, it is not possible to 'eradicate' them, as this material is fixed and cannot be used for downstream applications such as fertilization," he added.
She said at this stage, all they can do is to analyze the "selfish growths" and the sudden mutation that has caused this occurrence. Nevertheless, she said all the information they collected are very useful as these are the mutations which are most likely to appear in the fertilized egg.
