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One step forward has been taken by UCR Research in finding one of the root causes of autism. From the University’s division of Biomedical Sciences and School of Medicine, researchers have published their findings concerning the most common monogenic source: Fragile X Syndrome (FXS). The syndrome is also associated with female reproductive disorders such as premature ovarian failure or primary ovarian insufficiency. The study focuses solely on the endocrine system, gathering data concerning female reproduction. Ultimately, the research provides significant data that helps guide further research on the syndrome.

The overall goal is to find a way to identify the correlations between reproductive disorders and autism. This study focuses on females affected by the mechanisms of FXS. According to the study, approximately 1% of women are afflicted with reproductive disorders and 10% suffer from early depletion of ovarian follicles. Those that suffer from early menopause also have increased risk of heart disease and osteoporosis. Unfortunately, these issues are elusive from health screening insofar as there are currently zero strategies to detect those with increased risk of FXS. 

The study used mice as the test subjects. Since the main cause of FXS is mutations of the Fragile X messenger ribonucleoprotein 1 gene, or FMR1, the study would focus on the level at which the FMR protein was created by the FMR1. Researchers stop the gene’s expression permanently in female mice to mimic the reproductive deficits of women afflicted with FXS. These mice that had the gene “knocked out” were addressed as Fmr1 KO females, whereas non-affected and untouched mice were the control mice.

It was found that Fmr1 KO females had larger first three litters than the control mice. As the experiment progressed, however, control mice continued to produce litters for at least 10 litters and Fmr1 KO female’s productions of litters started to dwindle. 5 out of 11 Fmr1 KO females had a fourth litter and none had eighth litter. This was consistent with the previous research of early cessation of reproductions associated with females afflicted with FXS.

Further research entailed hypothalamic and ovarian contribution to endocrine changes concerning LH and FSH levels. It was concluded that increased LH in unmodified animals likely stems from central dysregulation, while increased FSH involves ovaries. Researchers have deduced from these further findings that the hypothalamus, along with the ovary, plays a big role in endocrine disruption leading to premature cessation of reproductive function.

Researchers hope that this data will help further research to better understand how women are affected by FXS.