Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

Fogli, Anne; Gauthier-Barichard, Fernande; Schiffmann, Raphael; Vanderhoof, Vien H.; Bakalov, Vladimir K.; Nelson, Lawrence M.; Boespflug‐Tanguy, Odile

doi:10.1186/1472-6874-4-8

Cited by 49 publications

(24 citation statements)

References 12 publications

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“…To further test the involvement of known mutations in EIF2B genes in POI, 93 patients with POI not associated with leukodystrophy or neurological symptoms have been investigated. None of the known mutations in EIF2B genes, either homozygous or heterozygous, were detected in patients with isolated 46,XX POI (Fogli et al 2004).…”

Section: Ovarian Leukodystrophymentioning

confidence: 89%

“…The prevalence of the disorder is about 1:2500 live female births (Sybert & McCauley 2004). In women with 45,X karyotype, oocyte loss occurs in the early stages of meiotic prophase, resulting in gonadal dysgenesis and PA with Sedgwick & Boder (1991), Perheentupa (1996), Weinstein et al (2004), Fogli et al (2003Fogli et al ( , 2004, Beysen et al (2009) Zhao et al (2008a,b) elevated FSH levels since early childhood (Reynaud et al 2004, Fechner et al 2006. However, spontaneous menarche and pregnancy have been reported not only in patients with mosaic karyotype, but also in few nonmosaic 45,X women (Pasquino et al 1997, Cools et al 2004, Livadas et al 2005.…”

Section: Syndromic Poimentioning

confidence: 99%

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Genes involved in human premature ovarian failure

Persani

Rossetti

Cacciatore

2010

Journal of Molecular Endocrinology

211

108

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Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40 years, representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive ever more frequently in their thirties and forties. POF can present very early with a pubertal defect. More frequently, it is the end stage of an occult process (primary ovarian insufficiency, POI) affecting w1-2% of under-40 women. POI is a heterogeneous disease caused by a variety of mechanisms. Though the underlying cause remains unexplained in the majority of cases, various data indicate that POI has a strong genetic component. These data include the existence of several causal genetic defects in humans, experimental and natural models, as well as the frequent familiarity. The variable expressivity of POI defect in women of the same family may indicate that, in addition to some monogenic forms, POI may frequently be considered as a multifactorial defect resulting from the contribution of several predisposing alleles. The X chromosome-linked defects play a major role among the presently known causal defects. Here, we review the principal X-linked and autosomal genes involved in syndromic and nonsyndromic forms of POI with the wish that this list will soon become upgraded because of the discovery of novel contributing mechanisms. A better understanding of POI pathogenesis will indeed allow the construction of tests able to predict the age of menopause in women at higher risk of POI.

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Section: Ovarian Leukodystrophymentioning

confidence: 89%

Section: Syndromic Poimentioning

confidence: 99%

Genes involved in human premature ovarian failure

Persani

Rossetti

Cacciatore

2010

Journal of Molecular Endocrinology

211

108

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“…EIF2B gene has an important role in protein synthesis and its regulation under different stress conditions prevents accumulation of denaturated proteins during cellular stress. Therefore, its dysfunction could be responsible for the increased apoptosis of ovarian follicles, but none of the known mutations in EIF2B genes, either homozygous or heterozygous, were detected in patients with isolated 46, XX POI [16]. FMR1 and FIGLA genes were also reported to have a certain relationship with the occurrence of POF, but not directly involve in the particles of GC cells development and regulation of ovulation [10,17].…”

Section: Discussionmentioning

confidence: 99%

Differentiation of rat iPS cells and ES cells into granulosa cell-like cells <italic>in vitro</italic>

Zhang¹,

Li²,

Wu³

et al. 2013

ABBS

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Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before 40 years of age, representing one major cause of female infertility. Stem cells provide the possibility of a potential treatment for POF. In this study, rat embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) were co-cultured with granulosa cells (GCs) to differentiate to GC-like cells. The level of estradiol (E2) analyzed by radioimmunoassay showed that the E2 concentration of the culture supernatant of co-cultured rat iPSCs and ESCs increased in a time-dependent manner, compared with the GCs group that has an opposite trend. The expression of follicle-stimulating hormone receptor (FSHR) was confirmed by immunostaining. These results indicated that rat iPSCs and ESCs were effectively induced to GC-like cells through indirect cell-to-cell contact. Real-time polymerase chain reaction was performed to analyze the expression level of marker genes in POF, including BMP15, FMR1, FSHR, INHA, AMH, NOBOX, FOXO3, EIF2B, FIGLA, and GDF9. The BMP15, FSHR, INHA, AMH, NOBOX, and GDF9 genes were significantly up-regulated in iPSCs and ESCs cocultured with GCs in comparison with cells that were not co-cultured. Thus, here we demonstrated an available method to differentiate rat iPSCs and ESCs into GC-like cells in vitro for the possible cell therapy of POF.

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“…The mutations in eIF2B (Eukaryoticinitation factors 2B) genes, particularly in EIF2B2, EIF2B4 and EIF2B5, which catalyze the exchange of GDP bound to eIF2 for GTP, are associated with ovarioleukodistrophy (degeneration of brain white matter and POI), but they have not been detected in patients only with POI [51].…”

Section: Mutations In Autosomal Genesmentioning

confidence: 99%

Genetics of primary ovarian insufficiency: a review

Fortuño

Labarta

2014

J Assist Reprod Genet

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Primary ovarian insufficiency is one of the main causes of female infertility owing to an abnormal ovarian reserve. Its relevance has increased in more recent years due to the fact that age of motherhood is being delayed in developed countries, with the risk of having either primary ovarian insufficiency or less chances of pregnancy when women consider the option of having their first baby. Several exogenous factors can lead to this event, such us viral infections, metabolomic dysfunction, autoimmune diseases, and environmental or iatrogenic factors, although in most cases the mechanism that leads to the disorder is unknown. Genetic factors represent the most commonly identified cause and the impact of sex chromosome abnormalities (e.g., Turner syndrome or X structural abnormalities), autosomal and X-linked mutations on the genesis of primary ovarian insufficiency has also been well described. Yet in most cases, the genetic origin remains unknown and there are multiple candidate genes. This review aims to collect all the genetic abnormalities and genes associated with syndromic and non syndromic primary ovarian insufficiency that have been published in the literature to date using the candidate-gene approach and a genome-wide analysis.

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Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

Cited by 49 publications

References 12 publications

Genes involved in human premature ovarian failure

Genes involved in human premature ovarian failure

Differentiation of rat iPS cells and ES cells into granulosa cell-like cells <italic>in vitro</italic>

Genetics of primary ovarian insufficiency: a review

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Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

Cited by 49 publications

References 12 publications

Genes involved in human premature ovarian failure

Genes involved in human premature ovarian failure

Differentiation of rat iPS cells and ES cells into granulosa cell-like cells &lt;italic&gt;in vitro&lt;/italic&gt;

Genetics of primary ovarian insufficiency: a review

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Differentiation of rat iPS cells and ES cells into granulosa cell-like cells <italic>in vitro</italic>