Gene that causes infertility ‘identified’

Scientists have identified a gene which they claim causes infertility.

A team from Virginia Commonwealth University has found the role of the gene, Smad-3, in regulating molecular signals involved with ovarian follicle development, which may one day help shed light on the causes of fertility issues in humans.

In the study, published in the latest edition of the ’Biology of Reproduction’ journal, the scientists have used a mouse model to examine the role of Smad-3 in the early stages of follicular growth to understand the molecular mechanisms that could influence fertility.

Specifically, they looked at the signaling pathways involved in the follicles’ response to follicle stimulating hormone, or FSH -- one of the most important hormones involved in fertility and is responsible for helping a woman’s body develop a mature egg.

The team, led by Prof Elizabeth McGee, reported that female mice missing the Smad—3 gene did not experience normal ovulation and were infertile because there is a reduced ability of the follicle to respond to FSH stimulation.

Further, the team concluded that Smad-3 regulates follicle growth and an important family of proteins that are essential for follicle development.

“Learning precisely how the FSH receptor is regulated is an important step in understanding the subtle defects in signal transduction that can interfere with follicle development and female fertility and could lead to new types of fertility treatments,” McGee said.