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Biological foundations of a reproductive problem brought on by an autism gene mutation

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.According to the Centers for Disease Control and Prevention, 19% of heterosexual couples in the U.S. experience infertility and need assisted reproductive technology, which can be too costly for many couples.

Coss explained that previous studies concerning the FMR1-mediated reproductive disorders analyzed them exclusively from an endocrine perspective, meaning they studied the changes in hormone levels and how endocrine cells functioned in the ovaries that produce them. In order to mimic the condition in patients with a mutation in this gene, Coss and her team performed the research using transgenic mice deficient in the FMR1 gene. They first discovered that this mouse model closely resembles the symptoms experienced by women who had a FMR1 mutation.

The reproduction-controlling neurons in the ovaries and the brain of these mice and those of their normal counterparts were then compared. They discovered that young transgenic female mice that later stopped reproducing early secreted hormones more quickly as a result of the changes in these neurons’ activity. Then, scientists removed the ovaries from these animals in order to study the impact of the FMR1 mutation on the brain’s neurons alone.