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Background: 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.

Methods: 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: 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.

Conclusions: These findings reinforce previous studies supporting the association between high levels of FMR4 and the risk of developing FXPOI in FMR1 premutation carriers.

Titel:	Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.
Autor/in / Beteiligte Person:	Agusti, I ; Alvarez-Mora, MI ; Wijngaard, R ; Borras, A ; Barcos, T ; Peralta, S ; Guimera, M ; Goday, A ; Manau, D ; Rodriguez-Revenga, L
Link:	Full Text Finder (Volltext)
Zeitschrift:	Journal of ovarian research, Jg. 17 (2024-05-17), Heft 1, S. 103
Veröffentlichung:	[London] : BioMed Central, c2008-, 2024
Medientyp:	academicJournal
ISSN:	1757-2215 (electronic)
DOI:	10.1186/s13048-024-01425-0
Schlagwort:	Humans Female Adult Heterozygote Fragile X Syndrome genetics Fragile X Syndrome blood Mutation Ovarian Follicle metabolism Young Adult Fragile X Mental Retardation Protein genetics Ovarian Reserve genetics Biomarkers blood Anti-Mullerian Hormone blood Primary Ovarian Insufficiency genetics Primary Ovarian Insufficiency blood
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [J Ovarian Res] 2024 May 17; Vol. 17 (1), pp. 103. <i>Date of Electronic Publication: </i>2024 May 17. MeSH Terms: Fragile X Mental Retardation Protein* / genetics ; Ovarian Reserve* / genetics ; Biomarkers* / blood ; Anti-Mullerian Hormone* / blood ; Primary Ovarian Insufficiency* / genetics ; Primary Ovarian Insufficiency* / blood ; Humans ; Female ; Adult ; Heterozygote ; Fragile X Syndrome / genetics ; Fragile X Syndrome / blood ; Mutation ; Ovarian Follicle / metabolism ; Young Adult References: Hum Reprod Update. 2014 May-Jun;20(3):370-85. (PMID: 24430863) ; Clin Obstet Gynecol. 2019 Jun;62(2):238-256. (PMID: 30994481) ; Eur J Hum Genet. 2006 Feb;14(2):253-5. (PMID: 16251893) ; Hum Reprod. 2005 Feb;20(2):402-12. (PMID: 15608041) ; Semin Reprod Med. 2020 Sep;38(4-05):263-269. (PMID: 33429444) ; Science. 1991 May 24;252(5009):1179-81. (PMID: 2031189) ; PLoS One. 2008 Jan 23;3(1):e1486. (PMID: 18213394) ; Reprod Biol Endocrinol. 2019 Jul 4;17(1):51. (PMID: 31272468) ; Hum Reprod. 2007 Aug;22(8):2142-52. (PMID: 17588953) ; Gynecol Endocrinol. 2016;32(4):334-7. (PMID: 26652047) ; Menopause. 2016 Sep;23(9):993-9. (PMID: 27552334) ; Hum Reprod. 2011 Jul;26(7):1616-24. (PMID: 21505041) ; Genome Med. 2012 Dec 21;4(12):100. (PMID: 23259642) ; N Engl J Med. 2009 Feb 5;360(6):606-14. (PMID: 19196677) ; J Clin Med. 2022 Apr 14;11(8):. (PMID: 35456280) ; Front Genet. 2015 Aug 10;6:263. (PMID: 26322075) ; Science. 1991 May 24;252(5009):1097-102. (PMID: 2031184) ; Endocr Rev. 2021 Nov 16;42(6):753-782. (PMID: 33851994) ; Hum Genet. 2014 Jan;133(1):59-67. (PMID: 24005575) ; Future Neurol. 2009 Nov 1;4(6):785. (PMID: 20161676) ; Hum Reprod. 2017 Jul 1;32(7):1508-1511. (PMID: 28472405) ; Front Endocrinol (Lausanne). 2021 Mar 18;12:601752. (PMID: 33815272) ; Cell. 1991 May 31;65(5):905-14. (PMID: 1710175) ; Am J Med Genet. 2000 Fall;97(3):189-94. (PMID: 11449487) Grant Information: 19-FE-011 Fundación Merck Salud; 19-FE-011 Fundación Merck Salud Contributed Indexing: Keywords: FMR1 premutation; FMR4; Fragile X-associated primary ovarian insufficiency; Ovarian follicle reserve Substance Nomenclature: 0 (FMR1 protein, human) Entry Date(s): Date Created: 20240517 Date Completed: 20240518 Latest Revision: 20240520 Update Code: 20240520 PubMed Central ID: PMC11100203

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