A groundbreaking study by researchers at Rutgers University-New Brunswick has identified a gene variant associated with early miscarriages, offering new insights into the genetic causes of infertility. This discovery is crucial in understanding the role of accelerated reproductive aging in women, a condition that causes an increase in abnormal eggs, leading to higher miscarriage rates.The findings, published in Proceedings of the National Academy of Sciences, could significantly impact women’s reproductive planning and fertility treatment options by identifying the genetic factors that contribute to early infertility. Scientists hope the discovery will lead to more targeted interventions for women struggling with fertility issues.
Understanding the Genetic Link to Miscarriages
The research centers on a mutation in the KIF18A gene, which encodes a kinesin protein involved in cellular processes. This mutation alters just one amino acid in the protein, causing it to accelerate the aging process of eggs in women who carry the variant. As a result, these women are more likely to produce eggs with chromosomal abnormalities, a condition known as aneuploidy, which is a major cause of miscarriages.
Karen Schindler, the study’s lead author and a professor in the Department of Genetics at Rutgers, emphasized that successful reproduction depends on the quality of eggs, and abnormalities like aneuploidy increase with age. For women with the KIF18A mutation, the accelerated aging of their eggs leads to higher rates of aneuploidy, even at younger ages, increasing the risk of early pregnancy loss.
Research Methodology and Findings
The research team, led by Professor Jinchuan Xing, conducted a detailed computational analysis of the genes of women who experienced high embryonic aneuploidy. Using genetic data from a biobank at an in vitro fertilization clinic, they identified a correlation between the KIF18A mutation and abnormal egg production. This was further supported by studies on mice genetically modified to carry the same mutation, which showed that the mice produced more abnormal eggs at a younger age than typical.
Leelabati Biswas, a co-first author of the study, explained that the findings go beyond correlation and establish a direct causal relationship between the gene variant and the production of abnormal eggs. The study’s success paves the way for future research into other potential genetic variants that could contribute to aneuploidy and infertility.
Potential Impact on Fertility Treatments
Schindler and Biswas believe that these findings could lead to more personalized fertility treatments. By identifying women who carry this genetic variant, doctors could advise them to consider early fertility preservation, such as egg freezing, to improve their chances of having a healthy pregnancy later in life. For women who are aware of their genetic predisposition to early infertility, starting their family earlier could significantly increase their chances of success.
“This discovery is an important first step toward precision medicine in reproductive health,” said Schindler. “If women know their genetic risk, they can make more informed decisions about when to try for a child, improving their outcomes.”
Looking Ahead
While this study marks a significant advancement in understanding the genetic causes of miscarriage, it is just the beginning. Researchers hope to uncover more genetic variants associated with aneuploidy, further deepening our knowledge of reproductive aging and its impact on fertility. The goal is to eventually offer women more targeted, personalized options to optimize their reproductive health.
The study was conducted by a multidisciplinary team from Rutgers University, including Katarzyna Tyc, Mansour Aboelenain, Siqi Sun, and Jason Liu from the Department of Genetics, as well as Assistant Professor Min Xu from the Department of Statistics. Additional contributions came from researchers at RMA NJ, Juno Genetics, and the Ruder Boskovic Institute in Croatia.
As reproductive science continues to evolve, the potential for personalized, genetic-based fertility treatments offers hope for women facing infertility and early pregnancy loss.