Sexual Organ Malformation: Here's Why Infertility Results

Recent findings published in Scientific Reports show how a single mutation in the beta-catenin gene can be responsible for infertility through abnormalities in the sexual organs--making sexual reproduction almost impossible.

"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," said lead study author Takuya Murata, in a news release. "But instead we found that the effects of this change were limited to specific organs."

For the study, researchers examined the importance of both development and maintenance among sexual organs by cultivating a mouse with the single mutation to the Beta-Catenin gene. They then created mice with single changes in amino acids.

Through the testing, they were able to identify a strain in the mice that caused them to be unable to sexually reproduce. However in vitro fertilization was possible.

Researchers noted that the beta-catenin pathway that regulates the expression of the protein did not shut off in some instances--resulting in malformation that harms the function during organ development and maintenance.

"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," concluded Takuya Murata, in a news release. "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."

With future studies, researchers said they hope to broaden the understanding of infertility and work on improved treatments for certain genetic factors that can be related to this and other underlying health issues.