News | Study Identifies Genetic Variant That Accelerates Egg Aging and May Improve Infertility Treatment
On November 22, 2024, researchers at Rutgers University announced a major discovery in reproductive health: by identifying a genetic variant directly associated with early miscarriage, they revealed a genetic cause of accelerated egg aging. The finding provides important evidence for research into early infertility and may offer new guidance for women's family planning and fertility treatment.
The study was published in Proceedings of the National Academy of Sciences. The team found that a single amino acid variant in the kinesin gene KIF18A can accelerate egg aging in women, reducing egg quality and increasing miscarriage risk. The variant causes abnormalities by affecting the number of chromosomes in eggs, known as aneuploidy, further increasing the likelihood of miscarriage.
Accelerated Egg Aging Affects Fertility Earlier
Karen Schindler, a Rutgers University genetics professor and one of the study's lead authors, said successful reproduction depends heavily on producing high-quality eggs. As women age, aneuploidy becomes more common in their eggs and is a major cause of miscarriage. Women with the KIF18A variant are more likely to produce chromosomally abnormal eggs because their eggs age faster, increasing miscarriage risk. This phenomenon is called “high embryonic aneuploidy.”
“During our research, we found that many women with chromosomally abnormal eggs carried this KIF18A mutation,” Professor Schindler added. “This finding greatly advances our understanding of abnormal eggs and the causes of female infertility and offers new ideas for early diagnosis and personalized treatment.”
From Genetic Variant to Egg Quality: A New Research Direction
To test the hypothesis, the team conducted extensive genetic analyses of women with the KIF18A variant and used computer simulations to identify possible genetic patterns in the data. Mouse experiments also found that affected mice produced more abnormal eggs at an early age, further supporting a causal relationship.
Co-first author Leelabati Biswas said: “This finding shows more than an association; it provides evidence of causation. We obtained strong confirmation that this variant is a root cause of accelerated egg aging.”
Early Warning for Women and the Prospect of Precision Fertility Treatment
A key significance of the study is its potential to provide an early warning. A woman who knows she carries the variant could plan pregnancy earlier or freeze eggs while they are of higher quality, reducing the effects of reproductive aging. Professor Schindler said: “If a woman knows she carries this genetic variant and faces a risk of early infertility, she could choose to start trying earlier—for example, at 28 rather than 32—which could make a major difference to her chance of success.”
The finding may give women more choices and support more personalized fertility treatments in the future. As additional related variants are discovered, researchers may be able to provide more precise genetic information and further improve treatment outcomes.
Future Outlook: New Opportunities for Personalized Reproductive Medicine
The team considers this study a first step toward addressing abnormal eggs and early infertility. More variants related to egg aneuploidy may be discovered, enabling more precise reproductive information and helping women make better-informed fertility decisions.
The research team also included Katarzyna Tyc, Mansour Aboelenain, and Siqi Sun of the Rutgers University Department of Genetics, and Professor Min Xu of the Department of Statistics. Other collaborators included Richard Scott of RMA New Jersey; Vanessa Guo and Xin Tao of Juno Genetics; and Iva Dundovic, Kruno Vukusic, and Iva Tolic of the Ruder Boskovic Institute in Croatia.
News | Study Identifies Genetic Variant That Accelerates Egg Aging and May Improve Infertility Treatment
News | Study Identifies Genetic Variant That Accelerates Egg Aging and May Improve Infertility Treatment
On November 22, 2024, researchers at Rutgers University announced a major discovery in reproductive health: by identifying a genetic variant directly associated with early miscarriage, they revealed a genetic cause of accelerated egg aging. The finding provides important evidence for research into early infertility and may offer new guidance for women's family planning and fertility treatment.
The study was published in Proceedings of the National Academy of Sciences. The team found that a single amino acid variant in the kinesin gene KIF18A can accelerate egg aging in women, reducing egg quality and increasing miscarriage risk. The variant causes abnormalities by affecting the number of chromosomes in eggs, known as aneuploidy, further increasing the likelihood of miscarriage.
Accelerated Egg Aging Affects Fertility Earlier
Karen Schindler, a Rutgers University genetics professor and one of the study's lead authors, said successful reproduction depends heavily on producing high-quality eggs. As women age, aneuploidy becomes more common in their eggs and is a major cause of miscarriage. Women with the KIF18A variant are more likely to produce chromosomally abnormal eggs because their eggs age faster, increasing miscarriage risk. This phenomenon is called “high embryonic aneuploidy.”
“During our research, we found that many women with chromosomally abnormal eggs carried this KIF18A mutation,” Professor Schindler added. “This finding greatly advances our understanding of abnormal eggs and the causes of female infertility and offers new ideas for early diagnosis and personalized treatment.”
From Genetic Variant to Egg Quality: A New Research Direction
To test the hypothesis, the team conducted extensive genetic analyses of women with the KIF18A variant and used computer simulations to identify possible genetic patterns in the data. Mouse experiments also found that affected mice produced more abnormal eggs at an early age, further supporting a causal relationship.
Co-first author Leelabati Biswas said: “This finding shows more than an association; it provides evidence of causation. We obtained strong confirmation that this variant is a root cause of accelerated egg aging.”
Early Warning for Women and the Prospect of Precision Fertility Treatment
A key significance of the study is its potential to provide an early warning. A woman who knows she carries the variant could plan pregnancy earlier or freeze eggs while they are of higher quality, reducing the effects of reproductive aging. Professor Schindler said: “If a woman knows she carries this genetic variant and faces a risk of early infertility, she could choose to start trying earlier—for example, at 28 rather than 32—which could make a major difference to her chance of success.”
The finding may give women more choices and support more personalized fertility treatments in the future. As additional related variants are discovered, researchers may be able to provide more precise genetic information and further improve treatment outcomes.
Future Outlook: New Opportunities for Personalized Reproductive Medicine
The team considers this study a first step toward addressing abnormal eggs and early infertility. More variants related to egg aneuploidy may be discovered, enabling more precise reproductive information and helping women make better-informed fertility decisions.
The research team also included Katarzyna Tyc, Mansour Aboelenain, and Siqi Sun of the Rutgers University Department of Genetics, and Professor Min Xu of the Department of Statistics. Other collaborators included Richard Scott of RMA New Jersey; Vanessa Guo and Xin Tao of Juno Genetics; and Iva Dundovic, Kruno Vukusic, and Iva Tolic of the Ruder Boskovic Institute in Croatia.
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