O-080 Activated AKT/mTOR signalling in peripheral blood of women with premature ovarian insufficiency and its correlation with variable FMR1 expression profiles

AbstractStudy questionHow predictive are gene expression levels of AKT/mTOR-signalling-pathway genes in peripheral blood of patients with premature ovary insufficiency (POI) and is there a link toFMR1-expression?Summary answerAKT1, TSC2, mTOR, S6K andFOXO3-expression-levels are significantly upregulated in POI-patients and demonstrate a positive correlation withFMR1-expression-level in case ofmTOR-, S6K andFOXO3.What is known alreadyThe AKT/mTOR-signalling-pathway is involved in a range of cellular functions. In female germline it regulates early follicular-activation and follicular-pool-maintenance. Over the past few years AKT-activation has been experimentally applied to induce follicular maturation in POI-patients. Additionally, first evidence of a linkedFMR1– AKT/mTOR signaling in female germline have been reported.FMR1 is a major control gene in folliculogenesis. Due to increased (CGG)-triplet-numbers (54< n  <  200) in its 5′-untranslated-region, named premutation, increasedFMR1-expression-levels and reduced FMRP-production have been described, associated with POI in 20% of cases. A former study found premutation independent, large transcript-level-variances ofFMR1 in leukocyte RNA-samples of POI-patients.Study design, size, duration74 POI patients and 56 fertile controls were prospectively enrolled in this study. Accordingly, expression levels of genes associated with the AKT/mTOR-signaling pathway andFMR1 were analyzed and correlated on the mRNA level of...
Source: Human Reproduction - Category: Reproduction Medicine Source Type: research