Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers

Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1 premutation women will develop FXPOI. We previously demo...

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Published in:Journal of ovarian research 2024-05, Vol.17 (1), p.103-7, Article 103
Main Authors: Agusti, Ines, Alvarez-Mora, Maria Isabel, Wijngaard, Robin, Borras, Aina, Barcos, Tamara, Peralta, Sara, Guimera, Marta, Goday, Anna, Manau, Dolors, Rodriguez-Revenga, Laia
Format: Article
Language:English
Subjects:
Adult
Anti-Mullerian Hormone - blood
Biomarkers - blood
Female
FMR1 premutation
FMR4
Fragile X Mental Retardation Protein - genetics
Fragile X Syndrome - blood
Fragile X Syndrome - genetics
Fragile X-associated primary ovarian insufficiency
Heterozygote
Humans
Mutation
Neonatology
Ovarian Follicle - metabolism
Ovarian follicle reserve
Ovarian Reserve - genetics
Primary Ovarian Insufficiency - blood
Primary Ovarian Insufficiency - genetics
Young Adult
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Summary:Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1 premutation women will develop FXPOI. We previously demonstrated that high FMR4 levels can discriminate between FMR1 premutation carriers with and without FXPOI. In the present study the relationship between the expression levels of FMR4 and the ovarian reserve markers was assessed in female FMR1 premutation carriers under age of 35 years. We examined the association between FMR4 transcript levels and the measures of total antral follicle count (AFC) and serum anti-müllerian hormone (AMH) levels as markers of ovarian follicle reserve. Results revealed a negative association between FMR4 levels and AMH (r = 0.45) and AFC (r = 0.64). Statistically significant higher FMR4 transcript levels were found among those FMR1 premutation women with both, low AFCs and AMH levels. These findings reinforce previous studies supporting the association between high levels of FMR4 and the risk of developing FXPOI in FMR1 premutation carriers.
ISSN:1757-2215
1757-2215
DOI:10.1186/s13048-024-01425-0