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Researchers find gene mutation that impacts women’s fertility

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Researchers found a gene mutation that leads to infertility in women. The mutated gene WT1 plays an important role in the early embryonic development controlling proteins that are needed for the successful nidation in mother’s womb.

Researchers from Leibniz Institute on Aging (FLI), in collaboration with the Sophien and Hufeland Hospital Weimar and the Heidelberg University Women’s Hospital, investigated samples of infertile women younger than 40 years. In one out of eight women, the gene WT1 showed a previously unknown mutation in one of its two alleles.

As the study’s authors explain: “This result was really surprising. Up to now, WT1 was only known as tumor suppressor gene important for the development and maintenance of organs like heart or kidney”.

The researchers found that mice lacking one Wt1 copy had far less offspring than healthy wild-type mice. They also discovered that it is Wt1’s activity in the ovary that regulates fertility.

“The new WT1 gene mutation, which we have found, causing the premature activation of proteases already in the ovary, offers completely new approaches to help childless couples to fulfill their desire to have children”, the researchers conclude.

The results of the study were published in the journal Human Molecular Genetics.


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