Gene discovery may unlock infertility, early menopause clues

Most women are aware that fertility declines dramatically with age. This is mainly due to the gradual loss of eggs and follicles from the ovaries, leading to infertility, irregular cycles and ultimately menopause.

Despite its significance, the factors that underlie the natural process of age-related egg and follicle loss, as well as those that promote premature ovarian aging, remain poorly understood.

Now, researchers at Monash University have conducted preclinical studies that identified a gene that may play a role in protecting female reproductive lifespan by reducing the low levels of chronic inflammation in the ovary that are a hallmark of aging.

Led by Dr. Karla Hutt, the study published in the Journal of Reproductive Biology and Endocrinology, found that loss of the gene Nfkb1 resulted in accelerated depletion of the ovarian reserve—a key characteristic of premature ovarian aging.

The study found females rapidly lost their eggs and follicles, creating a model that resembles diminished ovarian reserve or early menopause in humans, according to Hutt.

Importantly, loss of Nfkb1 was accompanied by increased inflammation in the ovaries. “Our findings suggest that loss of the Nfkb1 may cause chronic low-grade inflammation in the ovary, accelerating the age-associated depletion of follicles, leading to early loss of fertility and premature menopause,” Hutt said.

The study is important because only a small number of genetic factors linked to early and rapid loss of eggs and follicles have been identified to date.

“Women with premature ovarian insufficiency not only experience infertility, but also undergo an early decline in ovarian hormone production. This can increase the risk of long-term health conditions such as heart disease and osteoporosis,” Hutt said.

“This gene is clearly important for maintaining follicle numbers, and thus ovarian hormone production and female reproductive longevity.”

Hutt said the findings by her team warrant looking at the impact of this gene in women experiencing infertility. “Such studies could provide valuable insights into fertility genetics, which could help inform clinical care,” she said.

“Ultimately, this gene, or inflammatory pathways linked to it, could become targets for interventions aimed at extending a woman’s ovarian and reproductive lifespan.”

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Gaby Clark

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Andrew Zinin

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