FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5’-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-repeat-lengths with 55-200 repeats (pre-mutation = PM) show instable here...

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Main Authors: Rehnitz, Julia (Author) , Alcoba, Diego Duarte (Author) , Dietrich, Jens Erik (Author) , Youness, Berthe (Author) , Hinderhofer, Katrin (Author) , Messmer, Birgitta (Author) , Freis, Alexander (Author) , Strowitzki, Thomas (Author) , Germeyer, Ariane (Author)
Format: Article (Journal)
Language:English
Published: 7 July 2018
In: Reproductive biology and endocrinology
Year: 2018, Volume: 16
ISSN:1477-7827
DOI:10.1186/s12958-018-0383-5
Online Access:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/s12958-018-0383-5
Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s12958-018-0383-5
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Author Notes:Julia Rehnitz, Diego D. Alcoba, Ilma S. Brum, Jens E. Dietrich, Berthe Youness, Katrin Hinderhofer, Birgitta Messmer, Alexander Freis, Thomas Strowitzki and Ariane Germeyer
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Summary:Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5’-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-repeat-lengths with 55-200 repeats (pre-mutation = PM) show instable heredity with a tendency to increase and are associated with premature-ovarian-insufficiency or failure (POI/POF) in about 20%. FMR1-mRNA-expression in leucocytes and granulosa cells (GCs) increases with CGG-repeat-length in PM-carriers, but variable FMR1-expression profiles were also described in women with POI without PM-FMR1 repeat-length. Additionally, associations between low numbers of retrieved oocytes and elevated FMR1-expression levels have been shown in GCs of females with mid-range PM-CGG-repeats without POI. Effects of FMR1-repeat-lengths-deviations (n < 26 or n > 34) below the PM range (n < 55) on ovarian reserve and response to ovarian stimulation remain controversial.
Item Description:Gesehen am 26.07.2018
Physical Description:Online Resource
ISSN:1477-7827
DOI:10.1186/s12958-018-0383-5