ArticleHuman molecular genetics2012
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled it
- Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.International journal of molecular sciences · 2021Trial
- Article
- Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool.Journal of assisted reproduction and genetics · 2026Article
- Potential MiRNA therapies for premature ovarian failure: new challenges and opportunities.Stem cell research & therapy · 2025Review
- The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility.Frontiers in endocrinology · 2025Article
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Regulation of Bone Morphogenetic Protein Receptor Type II Expression byInternational journal of molecular sciences · 2024Article
- A matter of new life and cell death: programmed cell death in the mammalian ovary.Journal of biomedical science · 2024Review
- LH/hCG Regulation of Circular RNA in Mural Granulosa Cells during the Periovulatory Period in Mice.International journal of molecular sciences · 2023Article
- A Subpathway and Target Gene Cluster-Based Approach Uncovers lncRNAs Associated with Human Primordial Follicle Activation.International journal of molecular sciences · 2023Article
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Frontiers in endocrinology · 2023Article
- Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Article
- Biomaterials and advanced technologies for the evaluation and treatment of ovarian aging.Journal of nanobiotechnology · 2022Review
- Article
- Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.International journal of molecular sciences · 2021Review
- Advances in biomaterials and regenerative medicine for primary ovarian insufficiency therapy.Bioactive materials · 2021Review
- Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model.Human molecular genetics · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Spontaneous 46,XX primary ovarian insufficiency (POI), also known as 'premature menopause' or 'premature ovarian failure', refers to ovarian dysfunction that results in a range of abnormalities, from infertility to early menopause as the end stage. The most common known genetic cause of POI is the expansion of a CGG repeat to 55-199 copies (premutation) in the 5' untranslated region in the X-linked fragile X mental retardation 1 (FMR1) gene. POI associated with the FMR1 premutation is referred to as fragile X-associated POI (FXPOI). Here, we characterize a mouse model carrying the human FMR1 premutation allele and show that FMR1 premutation RNA can cause a reduction in the number of growing follicles in ovaries and is sufficient to impair female fertility. Alterations in selective serum hormone levels, including FSH, LH and 17β-estradiol, are seen in this mouse model, which mimics findings in humans. In addition, we also find that LH-induced ovulation-related gene expression is specifically altered. Finally, we show that the FMR1 premutation allele can lead to reduced phosphorylation of Akt and mTOR proteins. These results together suggest that FMR1 premutation RNA could cause the POI associated with FMR1 premutation carriers, and the Akt/mTOR pathway may serve as a therapeutic target for FXPOI.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.