Association between the
            <i>FMR1</i>
            CGG repeat lengths and the severity of idiopathic primary ovarian insufficiency: a meta analysis

Huang, Jing; Zhang, Wenxiang; Liu, Yingchun; Liu, Ying; Wang, Jing; Jiang, Hong

doi:10.1080/21691401.2019.1645153

Cited by 13 publications

(3 citation statements)

References 39 publications

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“…Based on this research, we can create a specific SNP panel for diagnosis of the risk of the development of uterine fibroids based on germ-line prospective genetic markers. The possibilities of molecular-genetic research methods are actively used in the diagnosis of various diseases: for example, mutations in the BRCA 1 and BRCA 2 genes in the diagnosis of breast and ovarian cancers [ 39 , 40 ] and the analysis of the FMR1 gene in the prognosis of primary ovarian insufficiency risks [ 41 ]. Using the NGS method, which allows simultaneous analysis of multiple genes in a single panel, we can diagnose MODY diabetes by examining a number of genes, such as GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS, and KCNJ11 [ 42 ].…”

Section: Discussionmentioning

confidence: 99%

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

et al. 2022

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In order to determine genetic loci associated with decreasing risk of uterine leiomyomata (UL), a genome-wide association study (GWAS) was performed. We analyzed a group of patients with a family history of UL and a control group consisting of patients without uterine fibroids and a family predisposition to this pathology. Six significant single nucleotide polymorphisms were selected for PCR-genotyping of a large data set of patients with UL. All investigated loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, and rs17677069) demonstrated the lower frequency of minor alleles within a group of women with UL, especially in a subgroup consisting of patients with UL and a familial history of leiomyomata. We also found that the minor allele frequencies of these SNPs in our control group were higher than those across the Caucasian population in all. Based on the obtained data, an evaluation of the common risk of UL was performed. Further work will pave the way to create a specific SNP-panel and allow us to estimate a genotype-based leiomyoma incidence risk. Subsequent studies of genetic variability in a group of patients with a familial predisposition to UL will allow us to make the prediction of the development and course of the disease more individualized, as well as to give our patients personalized recommendations about individual reproductive strategies.

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Section: Discussionmentioning

confidence: 99%

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

et al. 2022

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“…The etiologies of POI are highly heterogeneous, including genetics, autoimmune disorders, chemotherapy, radiation therapy, or ovarian surgery. Genetic variants, including those in the FMR1 , BMP15 , HFM1 , or SYCE1 , 2–5 may contribute to the development of POI by altering the function of ovarian follicles. Whole‐exome sequencing (WES) has emerged as a valuable tool for identifying genetic variants associated with POI.…”

Section: Introductionmentioning

confidence: 99%

Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency

Zhang,

Zhou,

Wang

et al. 2023

Clinical Genetics

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Premature ovarian insufficiency (POI) is a clinical syndrome of ovarian dysfunction characterized by cessation of menstruation occurring before the age of 40 years. The genetic causes of idiopathic POI remain unclear. Here we recruited a POI patient from a consanguineous family to screen for potential pathogenic variants associated with POI. Genetic variants of the pedigree were screened using whole‐exome sequencing analysis and validated through direct Sanger sequencing. A homozygous variant in TUFM (c.524G>C: p.Gly175Ala) was identified in this family. TUFM (Tu translation elongation factor, mitochondrial) is a nuclear‐encoded mitochondrial protein translation elongation factor that plays a critical role in maintaining normal mitochondrial function. The variant position was highly conserved among species and predicted to be disease causing. Our in vitro functional studies demonstrated that this variant causes decreased TUFM protein expression, leading to mitochondrial dysfunction and impaired autophagy activation. Moreover, we found that mice with targeted Tufm variant recapitulated the phenotypes of human POI. Thus, this is the first report of a homozygous pathogenic TUFM variant in POI. Our findings highlighted the essential role of mitochondrial genes in folliculogenesis and ovarian function maintenance.

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“…This external long-distance signaling is then interpreted and re-emitted differently to maintain and modulate delicate physiological functions, each of which appear to determine some aspect of oocyte quality. In mono-ovulatory species, most follicles will never reach ovulation and the gamete inside will simply die [ 16 – 18 ]. Based on the foregoing description, the gamete is the endpoint of the follicle and could be considered as a passive passenger totally dependent on the nurturing environment provided by the follicular cells.…”

Section: Introductionmentioning

confidence: 99%

Mammalian cumulus-oocyte complex communication: a dialog through long and short distance messaging

Marchais

Gilbert

Bastien

et al. 2022

J Assist Reprod Genet

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Communications are crucial to ovarian follicle development and to ovulation, and while both folliculogenesis and oogenesis are distinct processes, they share highly interdependent signaling pathways. Signals from distant organs such as the brain must be processed and compartments within the follicle have to be synchronized. The hypothalamic–pituitary–gonadal (HPG) axis relies on long-distance signalling analogous to wireless communication by which data is disseminated in the environment and cells equipped with the appropriate receptors receive and interpret the messages. In contrast, direct cell-to-cell transfer of molecules is a very targeted, short distance messaging system. Numerous signalling pathways have been identified and proven to be essential for the production of a developmentally competent egg. The development of the cumulus-oocyte complex relies largely on short distance communications or direct transfer type via extensions of corona radiata cells through the zona pellucida. The type of information transmitted through these transzonal projections is still largely uncharacterized. This review provides an overview of current understanding of the mechanisms by which the gamete receives and transmits information within the follicle. Moreover, it highlights the fact that in addition to the well-known systemic long-distance based communications from the HPG axis, these mechanisms acting more locally should also be considered as important targets for controlling/optimizing oocyte quality.

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Association between the FMR1 CGG repeat lengths and the severity of idiopathic primary ovarian insufficiency: a meta analysis

Cited by 13 publications

References 39 publications

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors

Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency

Mammalian cumulus-oocyte complex communication: a dialog through long and short distance messaging

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