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Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency

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Book cover Fragile-X Syndrome

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1942))

Abstract

Women who carry the FMR1 premutation may suffer from ongoing deterioration of ovarian function. The lucidity of the molecular mechanism of FXTAS is emerging and findings from research in the field of FXTAS could elucidate the pathogenesis of FXPOI. To date there are three possible mechanisms for ovarian dysfunction in FMR1 permutation carriers. The first is the RNA toxic gain-of-function mechanism initiating loss of function of over 30 specific RNA-binding proteins. The second is associated to the formation of an abnormal polyglycine-containing protein (FMRpolyG), and the third is related to novel lncRNAs, named FMR4 and FMR6. Herein we describe our laboratory methodology, focusing on the culturing and manipulation of granulosa cells from human female premutation carriers, trying to reveal the actual possible mechanisms liable to FXPOI. Detecting the precise pathways in premutation carrier might facilitate in offering these women the opportunity to make an informed decision regarding their reproductive and family planning.

Grant Sponsor: Azrieli research foundation Canada Israel

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Author information

Authors and Affiliations

  1. IVF unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center (Tel Hashomer), Ramat Gan, Israel

    Shai E. Elizur, Olga Dratviman-Storobinsky & Yoram Cohen

  2. The Fertility Research Laboratory, Chaim Sheba Medical Center (Tel Hashomer), Ramat Gan, Israel

    Shai E. Elizur, Moran Friedman Gohas & Yoram Cohen

Authors
  1. Shai E. Elizur
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  2. Moran Friedman Gohas
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  3. Olga Dratviman-Storobinsky
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  4. Yoram Cohen
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Corresponding author

Correspondence to Yoram Cohen .

Editor information

Editors and Affiliations

  1. Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel

    Dalit Ben-Yosef

  2. Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel

    Yoav Mayshar

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Elizur, S.E., Friedman Gohas, M., Dratviman-Storobinsky, O., Cohen, Y. (2019). Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency. In: Ben-Yosef, D., Mayshar, Y. (eds) Fragile-X Syndrome. Methods in Molecular Biology, vol 1942. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-9080-1_14

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  • DOI: https://doi.org/10.1007/978-1-4939-9080-1_14

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-9079-5

  • Online ISBN: 978-1-4939-9080-1

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