Female infertility affects up to 15% of couples, leading to prolonged clinical testing and treatment. A study by the University of Helsinki identified the TBPL2 gene defect as a significant cause of infertility in women, with the mutation being more common in Finland. Other genetic variants associated with infertility were also discovered. The TBPL2 gene defect affects the maturation of eggs in the ovaries and is inherited from both parents. Knowledge of this gene defect could guide infertility treatments, and further research is needed to understand genetic factors and assist affected couples. The study was published in The American Journal of Human Genetics in 2024.
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Major genetic defect linked to female infertility identified
