Dutch researchers have identified a faulty gene that causes pre-eclampsia in some families affected by the disease. Scientists at the VU University Medical Centre in Amsterdam say the identification of the gene, dubbed STOX1, could lead to new tests for the condition. Women at risk could then be given preventative treatment during pregnancy, say the team, who published their results in the journal Nature Genetics.
Pre-eclampsia usually arises during the second half of pregnancy. It can cause high blood pressure, liver problems, blood abnormalities, slow fetal growth and, if untreated, can lead to life-threatening seizures in the mother. Because the only way to 'treat' pre-eclampsia is to deliver the baby, the condition is a major reason for premature births and their associated health problems. The causes of pre-eclampsia are unknown, although some scientists think that it could be triggered by the mother's immune system attacking the fetal cells that form the placenta. The condition runs in families, suggesting that genes are involved, but other factors are also thought to play a role.
In the latest study, the Dutch team, working with colleagues based at Adelaide University in Australia, studied families in which two or more sisters had experienced pre-eclampsia during a pregnancy. They found that particular variants of STOX1 were more common in women affected by the condition, and that affected sisters shared the same faulty versions. The gene is known to be 'switched on' in the placenta during the early stages of development, which could explain its involvement in pre-eclampsia.
Interestingly, one woman in the study had a faulty STOX1 gene but did not develop the condition. Lead researcher Cees Oudejans said this could be because she received blood-thinning medication during early pregnancy. 'One of the things we should look at is whether early treatment with these kinds of medicines helps', he said. Michael Rich, chief executive of the UK charity Action on Pre-eclampsia said: 'What is clear is that a full family history should be taken at a pregnant woman's first "booking" appointment and that a woman should be made aware of the genetic link that exists in pre-eclampsia'.