Sat, 12th May 2012
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from the show Developmental genetics - from one cell to many
An international team of researchers have made an important step forward in understanding how nature and nurture work together when it comes to birth defects linked to faulty genes, according to a new paper in the journal Cell. The scientists were studying a relatively rare disease called congenital scoliosis, which causes babies to be born with a poorly-formed spine.
Using mice with a gene fault that mimics the human disease, the team found that even short periods of low oxygen during pregnancy (known as hypoxia) increased the risk and severity of baby mice being born with spine problems. In humans, hypoxia can be caused by a range of things like maternal smoking, high altitude, drug use or medical conditions such as maternal diabetes or anaemia, so the researchers think that the same mechanisms may be at work in human babies, increasing the chances of birth defects where there’s an underlying genetic defect.