Research group led by Prof. Dahua Chen created and characterized a mouse model carrying the human FMR1 premutation allele and show that FMR1 premutation RNA can cause a phenotype mimicking human “remature menopause” or “premature ovarian failure” (POF), the phenotype includes a reduction in the number of growing follicles in ovaries which is sufficient to impair female fertility, and alterations of selective serum hormone levels, including FSH, LH, and 17β-estradiol. The researchers also show that the FMR1 premutation allele can lead to reduced phosphorylation of Akt and mTOR proteins. These results were recently published in Human Molecular Genetics.
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