The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by degeneration of upper and lower motor neurons and neurons of the prefrontal cortex. The emergence of the C9ORF72 hexanucleotide repeat expansion mutation as the leading genetic cause of ALS and FTD has led to a progressive understanding of the multiple cellular pathways leading to neuronal degeneration. Disturbances in neuronal function represent a major subset of these mechanisms and because such functional perturbations precede degeneration, it is likely that impaired neuronal function in ALS/FTD plays an active role in pathogenesis. This is supported by the fact that ALS/FTD patients consistently present with neurophysiological impairments prior to any apparent degeneration. In this review we summarize how the discovery of the C9ORF72 repeat expansion mutation has contributed to the current understanding of neuronal dysfunction in ALS/FTD. Here, we discuss the impact of the repeat expansion on neuronal function in relation to intrinsic excitability, synaptic, network and ion channel properties, highlighting evidence of conserved and divergent pathophysiological impacts between cortical and motor neurons and the influence of non-neuronal cells. We further highlight the emerging association between these dysfunctional properties with molecular mechanisms of the C9ORF72 mutation that appear to include roles for both, haploinsufficiency of the C9ORF72 protein and aberrantly generated dipeptide repeat protein species. Finally, we suggest that relating key pathological observations in C9ORF72 repeat expansion ALS/FTD patients to the mechanistic impact of the C9ORF72 repeat expansion on neuronal function will lead to an improved understanding of how neurophysiological dysfunction impacts upon pathogenesis.

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The status and comparison of ovarian reserve between fertile and infertile healthy Chinese women of reproductive age

Medicine ◽

10.1097/md.0000000000025361 ◽

2021 ◽

Vol 100 (17) ◽

pp. e25361

Author(s):

Shan-Jie Zhou ◽

Tie-Cheng Sun ◽

Ling-Li Song ◽

Ming Yang ◽

Xin-Ping Sun ◽

...

Keyword(s):

Ovarian Reserve ◽

Chinese Women ◽

Reproductive Age ◽

Women Of Reproductive Age ◽

The Status ◽

Healthy Chinese

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Relationship of the ovarian reserve with autoimmune thyroid diseases in the reproductive period

Terapevticheskii arkhiv ◽

10.26442/00403660.2019.10.000095 ◽

2019 ◽

Vol 91 (10) ◽

pp. 14-18

Author(s):

O R Grigoryan ◽

N S Krasnovskaya ◽

R K Mikheev ◽

I S Yarovaia ◽

E N Andreeva ◽

...

Keyword(s):

Ovarian Reserve ◽

Inhibin B ◽

Reproductive Age ◽

Fmr1 Gene ◽

Normal Range ◽

Women Of Reproductive Age ◽

Antral Follicles ◽

Antithyroid Antibodies ◽

Healthy Women ◽

The Status

Aim. To compare ovarian reserve in healthy women of reproductive age - carriers of antithyroid antibodies (ATA) and in healthy women of reproductive age negative for ATA. Materials and methods. 70 healthy women of young reproductive age in the state of euthyroidism (from 18 to 38 years old) were examined. Participants were divided into equal groups (n=35) depending on the status of the presence of antithyroid antibodies (AT-TPO, AT-TG). On the 2nd-4th days of the menstrual cycle, the following markers of the ovarian reserve were determined: serum levels of anti-Müllerian hormone (AMG), inhibin B, FSH, LH, estradiol, testosterone and progesterone, as well as ultrasound parameters - the number of antral follicles and the volume of the ovaries. In addition, to determine the predisposition to premature ovarian failure, an analysis was performed to the number of CGG repeats in the FMR1 gene. Results and discussion. Statistically significantly differs such parameters as the level of estradiol and testosterone, while the differences were not clinically significant. All the parameters evaluated were within the normal range, the main predictors of the ovarian reserve (levels of AMG and inhibin B, the number of antral follicles) remained in the normal range. An increase in the number of repeats of CGG in the FMR1 gene was not detected in any of the participants in the study. Conclusion. In healthy young reproductive age women, the status of ATA does not have a direct effect on the ovarian reserve.

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