Gene mutation and unexplained female infertility

via trendzhub.org

"Researchers at Baylor College of Medicine, Texas Children's Hospital and Rice University have uncovered a gene mutation that may provide answers to unexplained female infertility. The study appears in Scientific Reports, a member of the Nature family of journals.

"Experts cannot identify the cause of the problem in an estimated 10 to 15 percent of couples with infertility and 50 percent of women with recurrent pregnancy loss," said senior author Dr. Ignatia B. Van den Veyver, professor of obstetrics and gynecology and molecular and human genetics at Baylor, and director of clinical prenatal genetics at Baylor and Texas Children's Hospital. "Researchers have found that women with mutations that lead to loss-of-function of some of the genes of the NLRP family can fail to reproduce for reasons that may include recurrent loss of pregnancies with abnormally developing placentas, loss of the embryo before implantation, or, more rarely, having a baby with developmental disabilities."

"Women carrying these mutations are healthy in all other physical aspects, so they are unaware that they have these mutations that do not allow them to carry a pregnancy," said first author Dr. Sangeetha Mahadevan, a graduate of the Translational Biology and Molecular Medicine program and currently a postdoctoral fellow in the Van den Veyver lab. "To investigate the mechanisms by which the inactivation of the human NLRP2 and NLRP7 genes might affect reproductive success and fertility, we developed a mouse model."

Mice, however, only carry the Nlrp2 gene, and the researchers hypothesized that it might assume the role of both NLRP2 and NLRP7 in humans..."

Learn more:

https://www.sciencedaily.com/releases/2017/03/170322092247.htm