Premature recruitment of oocyte pool and increased mTOR activity in Fmr1 knockout mice and reversal of phenotype with rapamycin

Sci Rep. 2018 Jan 12;8(1):588. doi: 10.1038/s41598-017-18598-y.

Abstract

While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known. Here, we studied the ovarian and reproductive phenotypes in an Fmr1 knockout (KO) mouse model and the role of mammalian target of rapamycin (mTOR) signaling. Breeding, histologic and mTOR signaling data were obtained at multiple time points in KO and wild type (WT) mice fed a control or rapamycin (mTOR inhibitor) diet. KO mice showed an earlier decline in ovarian reserve than WT mice with an increased proportion of activated follicles. mTOR and phosphorylated S6 kinase (p-S6K) levels, a measure of downstream mTOR signaling, were elevated in the KO ovaries. Rapamycin blocked these effects in KO mice, and increased the primordial follicle pool and age of last litter in WT mice. Our data demonstrates an early decline in reproductive capacity in Fmr1 KO mice and proposes that premature recruitment of the primordial pool via altered mTOR signaling may be the mechanism. Reversal of phenotypes and protein levels in rapamycin-treated KO mice, as well as increased reproductive lifespan of rapamycin-fed WT mice, suggest the mTOR pathway as a potential therapeutic target.

MeSH terms

  • Animals
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Mice
  • Mice, Knockout
  • Oocytes / drug effects
  • Oocytes / metabolism*
  • Organ Size
  • Ovarian Follicle / drug effects
  • Ovarian Reserve / drug effects*
  • Phenotype
  • Phosphorylation
  • Ribosomal Protein S6 Kinases / metabolism
  • Signal Transduction / drug effects
  • Sirolimus / administration & dosage*
  • Sirolimus / pharmacology
  • TOR Serine-Threonine Kinases / metabolism*

Substances

  • Fmr1 protein, mouse
  • Fragile X Mental Retardation Protein
  • mTOR protein, mouse
  • Ribosomal Protein S6 Kinases
  • TOR Serine-Threonine Kinases
  • Sirolimus