A study from the University of California, Riverside has shown the biological foundations of a reproductive problem brought on by a gene mutation. Fragile X Syndrome, a major hereditary cause of intellectual disability and autism, is also brought on by this gene mutation.

Due to modifications in the neurons that control reproduction in the brain and ovaries, the researchers discovered mutations in the Fragile X messenger ribonucleoprotein 1 gene, or FMR1, contribute to premature ovarian failure, or POF. Due to a 25-fold greater incidence of POF, the mutation has been linked to early infertility, but the exact causes have not been determined.

About 10% of women experience POF, which is the most severe kind of premature ovarian aging and is characterized by an early menopause and early ovarian follicle depletion. with females women who delay having children are more likely to experience infertility, including when the FMR1 gene is mutated.

According to Djurdjica Coss, a professor of biomedical sciences in the UCR School of Medicine who oversaw the research team, “the median age of first-time mothers in the U.S. and Europe has consistently climbed over the previous two or three decades.” “Moreover, early menopause increases the risk of osteoporosis and cardiovascular disease in addition to early infertility. So, it’s crucial to comprehend the causes of these reproductive problems and finally develop therapies. Such studies can also improve the advice given to at-risk women over when to have children and how to keep track of their health results.”

19% of heterosexual couples in the United States, according to the Centers for Disease Control and Prevention.

To do the research, Coss and her team used transgenic mice that lack the FMR1 gene to emulate the condition in people with a mutation in this gene. They first determined that this mouse model mimics what is observed in women with a FMR1 mutation. They then compared the reproduction-regulating neurons in the ovaries and the brain between these mice and their normal counterparts.

They found the changes in function of these neurons led to a more rapid secretion of hormones in young transgenic female mice that later stopped reproducing early. Next, they removed the ovaries from these mice to determine the effect of the FMR1 mutation on just the neurons in the brain.

“This allowed us to determine that these neurons in the brain, called gonadotropin-releasing hormone neurons, show changes in connectivity that affect how they function,” Coss said. “The increased number of synapses cause them to be faster and have more pulses of hormone secretion.”