In what could be a major advance in understanding the genetic causes underlying human infertility, scientists led by researchers from Rutgers University-New Brunswick have identified a gene variant directly tied to early miscarriages in women. The discovery of the variant is linked to accelerated reproductive aging, a condition producing high numbers of abnormal eggs that can lead to miscarriages. The findings could alert women to the potential for early infertility and guide them in their approach to reproductive planning and fertility treatment, scientists said.
“Knowledge of the precise genetic landscape that causes egg abnormalities in women has long been limited,” said Karen Schindler, an author of the study and a professor in the Department of Genetics in the Rutgers School of Arts and Sciences. “This work represents a significant step forward in our understanding of the underlying genetics and provides the deepest validation yet of a candidate variant for causation.”
Reporting their results in the journal Proceedings of the National Academy of Sciences, the scientists pinpointed the variant – which differs from the non-mutated version by only a single amino acid – in the kinesin protein gene KIF18A. This mutated protein, they found, speeds up the aging process of eggs in younger women with the variant, ultimately diminishing their fertility.
Successful female reproduction, Schindler said, is highly dependent on creating eggs of good quality. Miscarriages are often caused because women produce eggs with aneuploidy, an abnormal number of chromosomes. The possibility of producing eggs with aneuploidy increases with age. To read the full story.