Tuesday, November 11, 2014

Single Mutations Leading to Infertililty

In Tsukaba, Japan; scientists recently have been looking into the issue of infertility. They  have discovered that just one mutation in the "beta-catenin" gene can lead to infertility. The Beta-catenin gene is very much involved with with homeostatic and developmental processes.



The beta catenin is a protein that is used as a signaling pathway. As we get older it is known to "shut off" or be "deactivated" when necessary. This gene has been studied in mice very closely and the BRC research group noticed that mice with a single mutation to the beta catenin were having issues with reproducing. The research team created mice with single changes in amino acids, they were not able to reproduce naturally, but could do so through in-vitro fertilization. This showed that the problem was coming from a structural pathway instead of an issue with eggs and sperm.

This study with mice could help us find an understanding to the issue of infertility in some woman. Since mice and human amino acid sequence of the beta catenin are exactly the same, with more research of mice we might find a possible answer.

I find it interesting to read about articles that could lead to the helping of people who are having issues. For example the issue of infertility can be heartbreaking to some families and finding an answer to the issue could really relieve some people.

Article link: http://www.medicalnewstoday.com/releases/285136.php

Supporting link: http://www.rmact.com/getting-started/fertility-testing/genetic-testing


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