Study on the molecular mechanism of fragile X-associated primary ovarian insufficiency and diminished ovarian reserve

Fragile X mental retardation 1 (FMRl) has been shown to be the most significant single gene associated with primary ovarian insufficiency (POI) and diminished ovarian reserve (DOR). FMR1 gene mutant can lead to fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated diminished ovarian reserve (FXDOR). However, the molecular mechanisms that compromise follicular function are unknown. It was suggested that toxic FMR1 mRNA gain of function, fragile X mental retardation protein (FMRP) acting as translational repressors, FMRpolyG in ubiquitin-positive inclusions, histone modification pattern in regulation of FMR1 gene and down-regulated transcription profiling could be involved in FXPOI and FXDOR. We reviewed that the research progress on the molecular mechanism of ovarian dysfunction caused by FMR1 gene. Key words: Diminished ovarian reserve; Primary ovarian insufficiency; Fragile X mental retardation 1 gene mutation