Mutated Gene May Cause Infertility

the Renal and Urology News take:

A single mutated gene may lead to infertility by causing abnormalities in sexual organs, according to findings by Japanese researchers that were published in Scientific Reports.

Takuya Murata, PhD, and fellow colleagues at the RIKEN BioResource Center in Tsukuba, Japan, have found that a mutation in the beta-catenin gene , an essential protein involved in the development of all organs, led to the malformation of sexual organs in mice (seminal vesicles in males and vaginas in females).

“This raises the possibility that some infertility could be caused by beta-catenin, which has not generally been considered as a potential cause so far,” Dr. Murata stated. “This finding came as a major surprise because we were expecting to see effects on many organs, but instead we found that the effects of this change were limited to specific organs.”

The researchers believe that if they are able to confirm a link between the mutated gene and infertility, they could develop methods for early detection and treatment based on genetic diagnosis.

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A single mutated gene may lead to infertility by causing abnormalities in sexual organs.

Scientists from the RIKEN BioResource Center in Tsukuba, Japan, have discovered that a single mutation in the beta-catenin gene, which codes a protein known to be deeply involved in a number of developmental and homeostatic processes, can lead to infertility not through a disruption of the production of egg or sperm cells, but rather by leading to abnormalities in the morphology of the sexual organs, making natural reproduction impossible.

Beta-catenin is an essential protein in the Wnt/beta-catenin signaling pathway, which has been shown in mice to be involved in the development and maintenance of most, if not all organs, throughout their lives. Normally, it is switched on at some points during development, but then is turned off when it is no longer appropriate.

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