Salute e Benessere
Lethal mutations in pregnancy loss
As part of a Nordic collaboration, scientists from deCODE genetics sought to answer these questions by sequencing 467 samples from pregnancy losses from a prospective study initiated by and .
Interestingly, by comparing the genomes of the fetuses from pregnancy losses to their parents the scientists found that the fetuses harbored a similar number of new mutations as adults.
"Despite the similar numbers, we discovered that the main difference between the lost fetuses and adults was that the mutations in the fetuses occurred in essential genomic sequences," says
Moreover, they managed to pinpoint when, in the development of the fetus, some of the mutations occurred.
In addition to mapping new mutations in the lost fetuses, they also showed that some couples are at a higher risk of pregnancy loss due to genetic compatibility issues. You inherit one copy of a gene from each parent, and most of the time, you are fine with one defective copy, but problems can arise if you inherit a defective copy from both parents.
"We have shown previously that for certain genes, you never observe two defective copies in adult genomes, but we found two defective copies in some of the pregnancy losses. Importantly, these involve a high risk for recurrence of pregnancy loss for the couple but can be selected against in IVF treatments," says
Along with recombination, the continuous generation of mutations enables us to evolve as a species. However, this continuous influx of new mutations comes at the expense of rare diseases. This study demonstrates the contribution of mutations to pregnancy loss and sheds new light on conserved sequences in the human genome.
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