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Researchers in a study have a discovered gene level mechanisms behind infertility caused due to malformations in sexual organs.

According to Scientists from the Riken Bio Resource Center in Tsukuba, Japan, the Beta-Catenin protein, which plays an important role in development and maintenance of organs including sexual organs, can also lead to malformations of sexual organs when the regulating gene is affected with a single mutation. To test their hypothesis, researchers cultivated a mouse with single mutation to the Beta-Catenin gene. They then created mice with single changes in amino acids.

Through testing they were able to identify a particular strain in the mice population where the mice were unable to sexually reproduce but in vitro fertilization was possible. Thus while there were no problems with sperm or eggs, sexual organs including seminal vesicles in males and vaginas in females, had not developed properly.

The reason, researchers pointed out, was that the beta-catenin pathway which regulates expression of the protein did not shut off in some tissues, causing malformations. The protein is required to function only during organ development and maintenance but not at other times.

"Because the amino acid sequence of beta-catenin is 100% identical in humans and mice, the nucleotide change we saw could cause the same mutation in humans. This raises the possibility that some infertility could be caused by B-catenin, which has not generally been considered as a potential cause so far," the study's first author Takuya Murata said in a press release.

He adds, "This finding came as a major surprise because we were expecting to see effects on many organs, since the Wnt/beta-catenin pathway is so ubiquitous. But instead we found that the effects of this change were limited to specific organs."

The research is expected to broaden understanding of infertility and lead to improved treatments when genetic factors could be the underlying cause for the problem.