University of Helsinki | The researchers identified an “infertility gene”, which is more common in Finland than elsewhere

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Helsinki university researchers have identified an “infertility gene”.

The gene in question, called TBPL2, plays a significant role in women’s reproductive health. Now researchers have discovered that if both the mother and the father have inherited an error in the gene in question, the woman has a high risk of suffering from unintentional infertility.

In the light of the same study, the errors in the gene in question do not affect men’s fertility in the slightest.

“The gene mutation in question is rare, but in Finland it is more common than elsewhere,” says the geneticist Elisabeth Widen from the Finnish Institute of Molecular Medicine operating in connection with the university.

The discovery is interesting because it helps explain the causes of involuntary infertility: in up to 30–40 percent of cases, the causes of infertility remain unclear despite research.

A research finding has made possible the FinnGen research project that has been running since 2017, covers the whole of Finland and is led by the University of Helsinki.

In the project, more than half a million Finns have given a blood sample to the biobank, and researchers have compiled genomic information from the samples. Genome refers to the entire inheritance that is passed from parent to child. The goal is to identify the causes of diseases and find ways to prevent them.

Widén says that the project has combined genetic data obtained from biobanks with material in national healthcare registers. In this way, it has been possible to combine genetic information with, for example, medical history.

“In the project, we have identified more than 20,000 women who have been diagnosed with infertility. A large number of women who have been found to have an error in the TBPL2 gene inherited from both parents have not had children for nothing.”

Part however it is. This is significant and also hopeful information in terms of further research.

“Infertility treatments for these women have been successful in about 30 percent of the cases at most, and the number of children has remained small. In general, infertility treatments work well: about four out of five people who have undergone infertility treatments have a child.”

According to Widén, in further studies, we will find out how women who carried a genetic defect and still had a child have been treated.

“Infertility treatments cost money, take time and are very burdensome. We are interested in whether, in the future, it would be possible to identify the genetic defect already at the beginning of infertility treatments, and plan treatments accordingly.”

Elisabeth Widén describes the TBPL2 gene as an “orchestra conductor”, which plays an important role in the woman’s body during the maturation phase of the follicles. Picture: Rio Gandara / HS

Widen describes the TBPL2 gene as a kind of “conductor” that regulates the activity of other genes in the woman’s body during the maturation phase of the follicles.

Follicles play an important role in getting pregnant, as the eggs mature inside the follicles. The release of the ovum, i.e. ovulation, is preceded by the bursting of the follicle.

“The gene error causes the protein production of the TBPL2 gene to be disrupted.”

At the same time, Widén emphasizes that the hereditary risk factors for involuntary infertility are diverse. Mutations in the TBPL2 gene explain only a fraction of unintentional infertility cases in Finland.

“One percent of Finns carry a genetic defect. For some reason, however, the mutation is more common here than in other parts of the world.”

Unintentional childlessness is a common cause of grief in Finland as well as in other parts of the world.

About 15 percent of couples suffer from it at some point in their lives, and a significant factor causing infertility is found more often in women than in men.

Correction 11.10 at 14:42: Corrected the caption of the main picture of the story. The article previously incorrectly stated that Elisabeth Widén was a researcher at the Faculty of Medicine of the University of Helsinki.