Is there any relationship between mutation in CPS1 Gene and pregnancy loss?

Talebi, Mehrdad; Mehrjardi, Mohammad Yahya Vahidi; Kalhor, Kambiz; Dehghani, Mohammadreza

doi:10.18502/ijrm.v17i5.4604

Cited by 5 publications

(4 citation statements)

References 15 publications

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“…The normal physiological concentration of Glu is 14−192 μM. 60 The linear response range includes the normal value of Glu in the physiological environment.…”

Section: ■ Results and Discussionmentioning

confidence: 99%

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Highly Stable Lanthanide Metal–Organic Framework as an Internal Calibrated Luminescent Sensor for Glutamic Acid, a Neuropathy Biomarker

Xia

Wan

et al. 2020

Inorg. Chem.

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Glutamic acid (Glu) is the most abundant excitatory neurotransmitter in the central nervous system, and an elevated level of Glu may indicate some neuropathological diseases. Herein, three isomorphic microporous lanthanide metal−organic frameworks (MOFs) [(CH 3 ) 2 NH 2 ] 2 [Ln 6 (μ 3 -OH) 8 (BDC-OH) 6 (H 2 O) 6 ]•(solv) x (ZJU-168; ZJU = Zhejiang University, H 2 BDC-OH = 2-hydroxyterephthalic acid, Ln = Eu, Tb, Gd) were designed for the detection of Glu. ZJU-168(Eu) and ZJU-168(Tb) suspensions simultaneously produce the characteristic emission bands of both lanthanide ions and ligands. When ZJU-168(Eu) and ZJU-168(Tb) suspensions exposed to Glu, the fluorescence intensity of ligands increases while the emission of lanthanide ions is almost unchanged. By utilizing the emission of ligands as the detected signal and the emission of lanthanide ions as the internal reference, an internal calibrated fluorescence sensor for Glu was obtained. There is a good linear relationship between fluorescence intensity ratio and Glu concentration in a wide range with the detection limit of 3.6 μM for ZJU-168(Tb) and 4.3 μM for ZJU-168(Eu). Major compounds present in blood plasma have no interference for the detection of Glu. Furthermore, a convenient analytical device based on a one-to-two logic gate was constructed for monitoring Glu. These establish ZJU-168(Tb) as a potential turn-on, ratiometric, and colorimetric fluorescent sensor for practical detection of Glu.

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“…The normal physiological concentration of Glu is 14−192 μM. 60 The linear response range includes the normal value of Glu in the physiological environment.…”

Section: ■ Results and Discussionmentioning

confidence: 99%

“…The limit of detection (LOD) of ZJU-168(Tb) for Glu was calculated to be 3.6 μM based on a signal-to-noise ratio of 3:1. The normal physiological concentration of Glu is 14–192 μM . The linear response range includes the normal value of Glu in the physiological environment.…”

Section: Resultsmentioning

confidence: 99%

Highly Stable Lanthanide Metal–Organic Framework as an Internal Calibrated Luminescent Sensor for Glutamic Acid, a Neuropathy Biomarker

Xia

Wan

et al. 2020

Inorg. Chem.

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“…CPS1 (carbamoyl phosphate synthetase 1) acts as the first and rate-limiting urea cycle enzyme that converts ammonia to carbamoyl phosphate and is well known for its role in malignant disease [48,49]. CPS1 deficiency can lead to refusal to eat, coma, hypotonia, convulsions, lethargy, and even death [50]. However, investigation on its relation to fertility is limited.…”

Section: Discussionmentioning

confidence: 99%

Constructing a seventeen-gene signature model for non-obstructive azoospermia based on integrated transcriptome analyses and WGCNA

Chen

Yuan

et al. 2023

Reprod Biol Endocrinol

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Background Non-obstructive azoospermia (NOA) affects approximately 1% of the male population worldwide. The underlying mechanism and gene transcription remain unclear. This study aims to explore the potential pathogenesis for the detection and management of NOA. Methods Based on four microarray datasets from the Gene Expression Omnibus database, integrated analysis and weighted correlation network analysis (WGCNA) were used to obtain the intersected common differentially expressed genes (DESs). Differential signaling pathways were identified via GO and GSVA-KEGG analyses. We constructed a seventeen-gene signature model using least absolute shrinkage and selection operation (LASSO) regression, and validated its efficacy in another two GEO datasets. Three patients with NOA and three patients with obstructive azoospermia were recruited. The mRNA levels of seven key genes were measured in testicular samples, and the gene expression profile was evaluated in the Human Protein Atlas (HPA) database. Results In total, 388 upregulated and 795 downregulated common DEGs were identified between the NOA and control groups. ATPase activity, tubulin binding, microtubule binding, and metabolism- and immune-associated signaling pathways were significantly enriched. A seventeen-gene signature predictive model was constructed, and receiver operating characteristic (ROC) analysis showed that the area under the curve (AUC) values were 1.000 (training group), 0.901 (testing group), and 0.940 (validation set). The AUCs of seven key genes (REC8, CPS1, DHX57, RRS1, GSTA4, SI, and COX7B) were all > 0.8 in both the testing group and the validation set. The qRT-PCR results showed that consistent with the sequencing data, the mRNA levels of RRS1, GSTA4, and COX7B were upregulated, while CPS1, DHX57, and SI were downregulated in NOA. Four genes (CPS1, DHX57, RRS1, and SI) showed significant differences. Expression data from the HPA database showed the localization characteristics and trajectories of seven key genes in spermatogenic cells, Sertoli cells, and Leydig cells. Conclusions Our findings suggest a novel seventeen-gene signature model with a favorable predictive power, and identify seven key genes with potential as NOA-associated marker genes. Our study provides a new perspective for exploring the underlying pathological mechanism in male infertility.

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“…CPS1, short for Carbamoyl-Phosphate Synthase 1, provides instructions for making the enzyme carbamoyl phosphate synthetase I. Sheep CPS1 was associated with amino acid metabolism including alanine, aspartate and glutamate metabolism, and arginine and proline metabolism. It has been reported CPS1 is a liver-specific enzyme converting ammonia to carbamoyl phosphate in the first step of the urea cycle [ 32 , 33 ]. RPH3AL that is a Rab effector was mainly related to exocytosis and regulation of secretion/exocytosis in sheep, which was consistent with previous studies in the mouse model [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Whole-genome resequencing reveals domestication and signatures of selection in Ujimqin, Sunit, and Wu Ranke Mongolian sheep breeds

Wang

Zhong²,

Dong

et al. 2022

Anim Biosci

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Objective: The current study aimed to perform whole-genome resequencing of Chinese indigenous Mongolian sheep breeds including Ujimqin, Sunit, and Wu Ranke sheep breeds (UJMQ, SNT, WRK) and deeply analyze genetic variation, population structure, domestication, and selection for domestication traits among these Mongolian sheep breeds.Methods: Blood samples were collected from a total of 60 individuals comprising 20 WRK, 20 UJMQ, and 20 SNT. For genome sequencing, about 1.5 μg of genomic DNA was used for library construction with an insert size of about 350 bp. Pair-end sequencing were performed on Illumina NovaSeq platform, with the read length of 150 bp at each end. We then investigated the domestication and signatures of selection in these sheep breeds.Results: According to the population and demographic analyses, WRK and SNT populations were very similar, which were different from UJMQ populations. Genome wide association study identified 468 and 779 significant loci from SNT vs UJMQ, and UJMQ vs WRK, respectively. However, only 3 loci were identified from SNT vs WRK. Genomic comparison and selective sweep analysis among these sheep breeds suggested that genes associated with regulation of secretion, metabolic pathways including estrogen metabolism and amino acid metabolism, and neuron development have undergone strong selection during domestication.Conclusion: Our findings will facilitate the understanding of Chinese indigenous Mongolian sheep breeds domestication and selection for complex traits and provide a valuable genomic resource for future studies of sheep and other domestic animal breeding.

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Is there any relationship between mutation in CPS1 Gene and pregnancy loss?

Cited by 5 publications

References 15 publications

Highly Stable Lanthanide Metal–Organic Framework as an Internal Calibrated Luminescent Sensor for Glutamic Acid, a Neuropathy Biomarker

Highly Stable Lanthanide Metal–Organic Framework as an Internal Calibrated Luminescent Sensor for Glutamic Acid, a Neuropathy Biomarker

Constructing a seventeen-gene signature model for non-obstructive azoospermia based on integrated transcriptome analyses and WGCNA

Whole-genome resequencing reveals domestication and signatures of selection in Ujimqin, Sunit, and Wu Ranke Mongolian sheep breeds

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