Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers

Abstract FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH), to gain insights into the mechanis...

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Autores principales:	Moran Friedman-Gohas, Raoul Orvieto, Abigael Michaeli, Adva Aizer, Michal Kirshenbaum, Yoram Cohen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/cd6069a8f28a40c28bf08c457005f89b
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spelling	oai:doaj.org-article:cd6069a8f28a40c28bf08c457005f89b2021-12-02T16:15:07ZDysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers10.1038/s41598-021-93489-x2045-2322https://doaj.org/article/cd6069a8f28a40c28bf08c457005f89b2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-93489-xhttps://doaj.org/toc/2045-2322Abstract FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH), to gain insights into the mechanisms underlying the reduced ovarian function. Mural granulosa cells (MGCs) were collected from FMR1 premutation carriers and noncarriers undergoing IVF treatments. At baseline, MGCs of carriers demonstrated significantly higher mRNA expression levels of AMH (3.5 ± 2.2, n = 12 and 0.97 ± 0.5, n = 17, respectively; p = 0.0003) and FSH receptor (5.6 ± 2.8 and 2.7 ± 2.8, respectively; p = 0.02) and higher AMH protein expression on immunostaining. Accordingly, FMR1 premutation-transfected COV434 cells exhibited higher AMH protein expression than COV434 cells transfected with 20 CGG repeats. We conclude that FMR1 premutation may lead to dysregulation of AMH expression levels, probably due to a compensatory mechanism. Elucidating the pathophysiology of FXPOI may help in early detection of ovarian dysfunction and tailoring IVF treatments to FMR1 premutation carriers.Moran Friedman-GohasRaoul OrvietoAbigael MichaeliAdva AizerMichal KirshenbaumYoram CohenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Moran Friedman-Gohas Raoul Orvieto Abigael Michaeli Adva Aizer Michal Kirshenbaum Yoram Cohen Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
description	Abstract FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH), to gain insights into the mechanisms underlying the reduced ovarian function. Mural granulosa cells (MGCs) were collected from FMR1 premutation carriers and noncarriers undergoing IVF treatments. At baseline, MGCs of carriers demonstrated significantly higher mRNA expression levels of AMH (3.5 ± 2.2, n = 12 and 0.97 ± 0.5, n = 17, respectively; p = 0.0003) and FSH receptor (5.6 ± 2.8 and 2.7 ± 2.8, respectively; p = 0.02) and higher AMH protein expression on immunostaining. Accordingly, FMR1 premutation-transfected COV434 cells exhibited higher AMH protein expression than COV434 cells transfected with 20 CGG repeats. We conclude that FMR1 premutation may lead to dysregulation of AMH expression levels, probably due to a compensatory mechanism. Elucidating the pathophysiology of FXPOI may help in early detection of ovarian dysfunction and tailoring IVF treatments to FMR1 premutation carriers.
format	article
author	Moran Friedman-Gohas Raoul Orvieto Abigael Michaeli Adva Aizer Michal Kirshenbaum Yoram Cohen
author_facet	Moran Friedman-Gohas Raoul Orvieto Abigael Michaeli Adva Aizer Michal Kirshenbaum Yoram Cohen
author_sort	Moran Friedman-Gohas
title	Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
title_short	Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
title_full	Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
title_fullStr	Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
title_full_unstemmed	Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
title_sort	dysregulation of anti-mullerian hormone expression levels in mural granulosa cells of fmr1 premutation carriers
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/cd6069a8f28a40c28bf08c457005f89b
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Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers

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