0
0
Helsinki, Finland — A significant breakthrough in understanding female infertility has been made by researchers at the University of Helsinki, who identified a major genetic defect linked to the condition. The study, published in The American Journal of Human Genetics, sheds light on the underlying causes of infertility, which affects up to 15% of couples globally.
Using data from the FinnGen Study cohort, the researchers analyzed over 22,000 women who had undergone infertility treatments and compared them to nearly 200,000 women who had successfully given birth. This comprehensive investigation uncovered five genetic regions associated with infertility risk, with one gene defect—found in the TBPL2 gene—standing out as particularly impactful.
A Genetic Anomaly Prevalent in Finland
The TBPL2 gene mutation is highly unique, occurring 40 times more frequently in Finland than in other parts of the world. Approximately 1 in 100 Finns carry this genetic defect, which causes infertility only in women who inherit the defective gene from both parents.
“Our results showed that the association between the TBPL2 mutation and the average number of children in women is very clear,” explained Sanni Ruotsalainen, the study’s lead author from the Institute for Molecular Medicine Finland (FIMM). Researchers estimate that 400–500 women in Finland are affected by this double mutation. Interestingly, the defect does not appear to impact male fertility.
The study highlighted that the TBPL2 gene plays a critical regulatory role in the ovaries, and its absence disrupts the maturation of oocytes, preventing normal reproductive processes.
Implications for Diagnosis and Treatment
The findings could pave the way for new diagnostic and treatment approaches for female infertility. “Next, we aim to determine if there are specific characteristics in women with this defect that could help identify them during a doctor’s visit,” noted Elisabeth Widén, the study’s principal investigator.
Potential applications of the research include the development of genetic testing to diagnose this mutation and personalized infertility treatments. However, Widén emphasized that further studies are needed to understand the prognosis and optimize treatment strategies.
Broader Genetic Insights
In addition to the TBPL2 mutation, the study identified other genetic variants linked to infertility. These variants were previously associated with conditions like endometriosis and polycystic ovary syndrome, though their impact is less significant than that of the TBPL2 defect.
This research marks a step forward in unraveling the genetic complexities of infertility and highlights the need for ongoing exploration in the field. “More medical research is needed to better understand genetic factors associated with infertility and to assist affected couples,” Widén added.
The study’s findings hold promise for improving the diagnosis and treatment of infertility, offering hope to couples worldwide struggling with this condition.
For more information, refer to the study by Sanni Ruotsalainen et al. in The American Journal of Human Genetics, DOI: 10.1016/j.ajhg.2024.10.018.
