Discovering the Gene Variant: A Breakthrough Link to Early Infertility

Researchers from Rutgers University-New Brunswick have made a significant discovery in genetics related to female infertility. They identified a gene variant linked to early miscarriages in women. This variant accelerates reproductive aging, leading to a higher production of abnormal eggs and potential miscarriages.

Karen Schindler, a professor of genetics, stated that understanding the genetics behind egg abnormalities has been limited. The study represents a breakthrough in this area. The findings were published in the journal Proceedings of the National Academy of Sciences.

The researchers focused on a variant in the KIF18A gene, which alters a single amino acid. This change causes the protein to speed up the aging of eggs in younger women, ultimately reducing their fertility. Women with this variant produce more eggs with aneuploidy, which means an abnormal number of chromosomes. The risk of aneuploidy increases with age.

Professor Jinchuan Xing led a team that analyzed data from a biobank at an in vitro fertilization clinic. Their analysis revealed that many women with abnormal eggs carried the mutation in the KIF18A gene. Additional studies on mice with this variant showed a higher production of abnormal eggs at an earlier age than usual.

Leelabati Biswas, a co-first author of the study, confirmed a causal relationship between the gene variant and egg abnormalities. This research opens new avenues for further exploration. Biswas and Schindler hope to find additional variants linked to aneuploidy.

They envision using this knowledge to provide women with targeted genetic information for better reproductive health and treatments. This study marks a crucial step in precision medicine for women’s fertility.

Reference: Biswas L, Tyc KM, Aboelenain M, et al. Maternal genetic variants in kinesin motor domains prematurely increase egg aneuploidy. Proc Nat Acad Sci USA. 2024;121(45):e2414963121. doi: 10.1073/pnas.2414963121