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A study has found that regarding 17% of women diagnosed with unexplained infertility have genetic mutations that cause heart disease, cancer, or rare diseases.
A research team led by Lawrence Rayman, professor of infertility and genetics at Georgia Medical University, Augusta, USA, published the results of a study on ‘female infertility of unknown cause related to genetic disease mutation’ in the international journal ‘New England Journal of Medicine (NEMJ)’ on the 16th (local time).
Professor Rayman said, “Patients who came to have a baby tended to suffer from diseases such as breast cancer 10 years later, and I was curious regarding what happened between infertility and the onset of the disease.” “I thought that intervention might help with treatment,” he said. In fact, in 2020, the US National Institutes of Health (NIH) announced that “infertility can be a window into overall health.”
The research team analyzed the genes of 197 infertile women between the ages of 18 and 40 to find gene mutations known or suspected to cause the disease. Information on women was obtained from the NIH-affiliated Eunice Kennedy Shriver National Child Health and Human Development Collaborative Reproductive Medicine Network.
The study found that regarding 17% of the women analyzed had mutations that cause or are suspected of causing other diseases in the future, including heart disease, cancer and rare diseases.
About 10% of the women analyzed had a genetic mutation known to cause a disease that is difficult to treat, such as Parkinson’s disease. Twenty mutations related to muscle-wasting Lou Gehrig’s disease or polycystic kidney disease that destroys the kidneys were found in 21 of the women analyzed. Four had BRCA1 and BRCA2 mutations involved in the development of breast or ovarian cancer with a high probability.
About 6.6% of the women analyzed were found to have 59 disease-related gene mutations that might eliminate or reduce the risk by improving their lifestyle or visiting a medical institution. In contrast, only regarding 2.5% of the general population had this genetic variant.
Professor Rayman said, “This is the first study to identify disease-causing genetic mutations in women with unexplained infertility, and infertility can actually become a ‘biomarker’ for future diseases.” “Genes associated with future ovarian aging and cancer risk We plan to research it,” he said.
Lawrence Rayman, Professor of Infertility and Genetics, Georgia Medical University, Augusta, USA. Provided by Georgia Medical University, Augusta, USA