Probe into ‘jumping gene’ miscarriage link

The link between ‘jumping genes’ and early pregnancy loss will be studied in a new research project at the Mater Research in Queensland

‘This research … would help so many women keep going on their fertility journey,’ says Brisbane mother Ramona Harvie, with six-week-old Diyon. Picture: Peter Wallis

The reasons for early pregnancy loss could in future be revealed by genetic analysis as a result of research that aims to establish how changes to DNA in the early ­stages of pregnancy can trigger miscarriage.

Brisbane organisation Mater Research has been granted a $500,000 donation to advance the study of what are known as “jumping genes”, which may be responsible for a proportion of early miscarriages.

Mater Research is a founding partner of the Translational Research Institute, which is leading the study following the donation from the provider of lotteries in Australia, The Lott, and aims to be able to eventually provide answers to women who experience pregnancy loss, with most currently having no idea of whether there may have been an identifiable cause.

“It’s really a black box, especially on early miscarriages,” said Sandy Richardson, Mater Research’s Leader of Developmental Molecular Genetics. “I think very often the cause of early miscarriage is not explored at all.

“And when it is explored by doing some kind of genetic analysis of the of the embryo, it’s done in a way likely to miss things like jumping gene mutations.”

“Jumping genes” are transposable elements of DNA sequences that move from one location on the genome to another.

This process can occur within the parents’ egg or sperm cells, or very early during pregnancy in the embryo’s cells.

“They essentially copy and paste themselves somewhere else in the genome,” Dr Richardson said. “If the place they choose to place themselves happens to be within a gene, or a genetic sequence, that’s really important for the function of the cell and can have devastating consequences and lead to miscarriage.”

Brisbane mother Ramona Harvie had an early miscarriage between her first and second pregnancies, with all three conceived via IVF.

She said while losing her second pregnancy was devastating, it was also very difficult not knowing what had gone wrong.

“When you do IVF, you sort of know … they all have to be really good embryos,” she said. “It’s not that you’re never expecting a loss, it’s just a shock, and you ask yourself all the questions: Was it because of this medication? Was I too busy? Was I too stressed?

“I think this research being done is wonderful and … would help so many women to get in the right headspace to keep going on their fertility journey – to know there might have been a genetic reason for that particular loss.”

The Mater Research study will use the latest genetic analysis technology – “long read sequencing – to investigate how mobile sequences of DNA can cause dangerous mutations to develop in growing embryos. The new analysis technology allows scientists to study tens of thousands of letters of the genetic code.

Dr Richardson said her team would also examine whether there might be any triggers for parts of genes to “jump” and cause mutations, such as defects in the body’s defence mechanisms that control jumping gene activity, or environmental triggers such as exposure to toxins.