An estimated 80 million people worldwide struggle with the desire to have children but cannot. For one in ten couples, the reasons for infertility remain unknown. Now, a team of scientists from the Leibniz Institute on Aging (FLI) in Jena, Germany, working with clinical partners, has discovered a new gene mutation that may explain infertility in women.
The mutation affects the WT1 gene, which plays a key role in early embryo development. WT1 controls proteins called proteases that are crucial for the embryo to successfully implant in the mother’s womb. This discovery was recently published in the journal Human Molecular Genetics.
Infertility: A Hidden Genetic Cause
For many couples, having a child remains a dream unfulfilled. While some face clear medical issues, others remain childless without any obvious reason. The researchers at FLI collaborated with hospitals in Weimar and Heidelberg to study women under 40 who suffer from unexplained infertility. They found that in one out of eight women tested, the WT1 gene carried a previously unknown mutation.
Dr. Abinaya Nathan, the study’s first author, said, “This finding was surprising. Until now, WT1 was only known as a tumor suppressor gene important for organs like the heart and kidney.” The new research reveals that WT1 also plays a vital role in female fertility.
What Does WT1 Do?
To understand the gene’s function, the team conducted experiments on mice. Female mice missing one copy of the Wt1 gene had far fewer offspring compared to healthy mice. The scientists found that WT1 works mainly in the ovary, which guides the egg into the womb after ovulation. The ovary is also where fertilization occurs.
After fertilization, the embryo travels down the fallopian tube while dividing and growing. This process needs to be perfectly timed. If the embryo grows too fast, it can cause a dangerous tubal pregnancy. If it grows too slowly, it cannot implant properly in the womb.
Professor Christoph Englert, head of the research group at FLI, explained, “The communication between the mother’s ovary and the embryo is crucial for a successful pregnancy.”
Proteases: Key Players in Embryo Implantation
The researchers discovered that proteases—enzymes that break down proteins—are essential for this communication. Proteases “pre-digest” the embryo to prepare it for implantation, usually only activating inside the womb.
However, when WT1 is mutated, a protease called Prss29 becomes active prematurely in the ovary. This early activation damages the embryo, preventing it from attaching to the uterine wall and causing it to be rejected. This could explain why some women cannot get pregnant despite no obvious medical problems.
Dr. Verena Holschbach from Heidelberg University Women’s Hospital emphasized the importance of this finding, “The results in mice and humans are very similar, showing that the WT1 gene’s role is highly conserved in mammals.”
New Hope for Infertile Couples
The discovery of this new WT1 gene mutation offers fresh hope for couples facing unexplained infertility. The researchers believe this insight could lead to new treatments by altering the womb environment or targeting protease activity.
The team plans to expand clinical screenings and investigate ways to improve the uterine conditions for implantation.
Related topics:
- Malaria Drug Shows Promise in Treating PCOS Symptoms
- Understanding PCOS: A Growing Concern for Women’s Health
- Herbs for PCOS: A Natural Aid for Hormonal Balance and Wellness
