Breakthrough Study Links Genetic Variant to Egg Abnormalities and Miscarriages in Women

Advances Understanding of Genetics Causing Egg Abnormalities in Humans

Researchers from Rutgers University-New Brunswick have made a significant discovery in human infertility. They identified a gene variant linked to early miscarriages in women. This variant accelerates reproductive aging, resulting in many abnormal eggs that can lead to miscarriages. The findings may help women understand early infertility and improve reproductive planning and treatment options.

Karen Schindler, a professor in the Department of Genetics at Rutgers, emphasized the importance of this research. She stated, “Knowledge of the precise genetic landscape that causes egg abnormalities in women has long been limited.” This discovery provides deeper insights into the genetics involved and validates a specific variant’s role in causing these issues.

In their study published in the Proceedings of the National Academy of Sciences, the team pinpointed the gene variant in the kinesin protein gene KIF18A. This variant alters just one amino acid in the protein, leading to faster aging of eggs in younger women. As a result, these women are more likely to produce eggs with aneuploidy, which is an abnormal number of chromosomes. This risk increases with age.

Women with the KIF18A variant produce more abnormal eggs earlier than usual. Jinchuan Xing, a professor of genetics at Rutgers, led a team that analyzed the genetic data of women with high embryonic aneuploidy. Their research used a database from an in vitro fertilization clinic to find patterns in the DNA of patients.

The analysis revealed that many women with abnormal eggs carried the KIF18A mutation. Further studies involving engineered mice confirmed that the variant leads to more abnormal eggs produced at an earlier age.

Leelabati Biswas, co-first author of the study, noted the importance of their findings: “This is more than a correlation; it’s a causal relationship.” The results strengthen their previous data and validate their conclusions.

The researchers believe this study is just the beginning. They hope to find more gene variants associated with aneuploidy, which could enhance understanding of fertility issues. Biswas stated, “This is a first step. We’re heading in a direction where we may be able to give women more opportunities for precision medicine, using targeted genetic information for reproductive treatments.”