scholarly journals PL-002 AGTR1 polymorphism is associated with elite endurance athletes: A functional study

2018 ◽  
Vol 1 (1) ◽  
Author(s):  
Xiaolin Yang ◽  
Yang Hu ◽  
Yanchun Li ◽  
Tao Mei ◽  
Lijing Gong
Keyword(s):  
Mrna Level ◽  
Endurance Athletes ◽  
Aerobic Performance ◽  
Functional Study ◽  
Genotype Distribution ◽  
Mrna Levels ◽  
Angiotensin Ii Receptor ◽  
Control Subjects ◽  
Genotype Frequencies ◽  
And Control

Objective To explore the association between the polymorphism of angiotensin II receptor type 1 gene(AGTR1) and elite endurance athlete performance and the mechanism of how the polymorphism works. Methods (1) Polymorphism of AGTR1 rs5182 between 122 elite Chinese endurance athletes and 222 controls were analyzed by MALDI-TOF-MS. (2) Aerobic capacity of 79 elite Chinese endurance athletes such as VC/FEV1/MVV/ VO2AT/ HRAT/ VAT/ VO2max/ HRmax/ VVO2max were measured and association between rs5182 polymorphism and the performance was analyzed. (3) PcDNA3.1-AGTR1 -T and pcDNA3.1-AGTR1-C plasmid were build and the plasmids was transfected into mammalian 293T cells. mRNA levels were detected after 48 hours. Statistical analysis was performed using SPSS software version 15.0. Values of P < 0.05 were considered statistically significant. Continuous data were expressed as mean ± SD, while categorical data were expressed as frequencies. Genotype distribution and allele frequencies between athletes and control subjects were compared using χ2 tests. Aerobic performance data was analyzed with One-Way ANOVA if it conformed to normal distribution and homogeneity of variance otherwise Non-parametric test of independent sample was used. Results (1) Genotype frequencies of AGTR1 rs5182 are significant differences between the athletes and control subjects (p = 0.040), the Word-Class athletes and control subjects (p = 0.018), 5km athletes and control subjects (p =0.015), 10km athletes and control subjects (p = 0.026), male athletes and male controls(p=0.045). (2) Association is found between Genotype distribution and MV(L/min) though others not (Genotype: MV; CC: 122.514±6.767; CT:117.187±17.961; TT:119.688±20.226, p=0.047). (3) Transiently transfectedpcDNA3.1-AGTR1-T and pcDNA3.1-AGTR1-C plasmids into 293T cells successfully. The differences of mRNA levels between the groups were not significant (p = 0.991). Conclusions  AGTR1 gene rs5182 could be a candidate genetic mark of selection elite endurance athletes in Han Population from Northern China, but this polymorphism does not affect AT1R protein function through changing its mRNA level.

scholarly journals Whole Blood Transcriptome Analysis in Children with Sickle Cell Anemia

2022 ◽  
Vol 12 ◽  
Author(s):  
Beatrice E. Gee ◽  
Andrea Pearson ◽  
Iris Buchanan-Perry ◽  
Roger P. Simon ◽  
David R. Archer ◽  
...  
Keyword(s):  
Gene Expression ◽  
Rna Sequencing ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Whole Blood ◽  
Differentially Expressed ◽  
Mrna Levels ◽  
Control Subjects ◽  
Non Coding Rna ◽  
And Control

Whole transcriptome RNA-sequencing was performed to quantify RNA expression changes in whole blood samples collected from steady state sickle cell anemia (SCA) and control subjects. Pediatric SCA and control subjects were recruited from Atlanta (GA)—based hospital(s) systems and consented for RNA sequencing. RNA sequencing was performed on an Ion Torrent S5 sequencer, using the Ion Total RNA-seq v2 protocol. Data were aligned to the hg19 reference genome and analyzed in the Partek Genomics studio package (v7.0). 223 genes were differentially expressed between SCA and controls (± 1.5 fold change FDR p &lt; 0.001) and 441 genes show differential transcript expression (± 1.5 fold FDR p &lt; 0.001). Differentially expressed RNA are enriched for hemoglobin associated genes and ubiquitin-proteasome pathway genes. Further analysis shows higher gamma globin gene expression in SCA (33-fold HBG1 and 49-fold HBG2, both FDR p &lt; 0.05), which did not correlate with hemoglobin F protein levels. eQTL analysis identified SNPs in novel non-coding RNA RYR2 gene as having a potential regulatory role in HBG1 and HBG2 expression levels. Gene expression correlation identified JHDM1D-AS1(KDM7A-DT), a non-coding RNA associated with angiogenesis, enhanced GATA1 and decreased JAK-STAT signaling to correlate with HBG1 and HBG2 mRNA levels. These data suggest novel regulatory mechanisms for fetal hemoglobin regulation, which may offer innovative therapeutic approaches for SCA.

Increased NOX1 and DOUX2 Expression in the Colonic Mucosa of Patients with Chronic Functional Constipation

2021 ◽  
Author(s):  
Xiuqin Wei ◽  
Chunbo Kang ◽  
Lei Gao ◽  
Mengqiao Zhang ◽  
Mei Xue ◽  
...  
Keyword(s):  
Nadph Oxidase ◽  
Healthy Subjects ◽  
Mrna Level ◽  
Functional Constipation ◽  
Inflammatory Cells ◽  
Histological Structure ◽  
Mrna Levels ◽  
Significant Difference ◽  
And Control ◽  
Colonic Biopsies

Abstract Aim To determine whether oxidative stress and inflammation are associated with constipation by examining the expression of the main producers of reactive oxygen species, NADPH oxidases, and pro-inflammatory cytokines in the colon of patients with chronic functional constipation. Methods The colonic biopsies were collected from 32 patients with chronic functional constipation and 30 healthy subjects who underwent colonoscopy. Colonic mucosal histology was observed. IL-1β, IL-6, IL-8 mRNA, and four members of NADPH oxidase (NOX1, NOX2, DOUX2 and NOX4) protein and mRNA were assessed by immunohistochemistry, western blotting and RT-PCR. Results The tissues from both patients and healthy subjects showed normal histological structure without increase of inflammatory cells. NOX1 protein and mRNA levels were significantly increased compared to controls (P<0.05). DOUX2 protein, but not mRNA, was increased by twofold compared to controls (P<0.05). The levels of NOX2 and NOX4 protein and mRNA demonstrated no significant difference between patients and control subjects. The levels of IL-1β and IL-6 mRNA were significantly higher in constipation patients (P<0.05), while IL-8 mRNA level was no different between the two groups. Conclusion NADPH oxidase and pro-inflammatory cytokine might be involved in the pathogeneses of chronic functional constipation.

Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status

2017 ◽  
Vol 27 (6) ◽  
pp. 533-542 ◽  
Author(s):  
João Paulo Limongi França Guilherme ◽  
Antonio Herbert Lancha
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Endurance Athletes ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Minor Alleles ◽  
Representative Cohort

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

scholarly journals CLU Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Hanna Lesiewska ◽  
Katarzyna Linkowska ◽  
Joanna Stafiej ◽  
Tomasz Grzybowski ◽  
Jacek Swobodziński ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Disease State ◽  
Pseudoexfoliation Syndrome ◽  
Polish Population ◽  
Control Groups ◽  
Control Subjects ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
And Control

Purpose. To evaluate CLU polymorphisms in patients with pseudoexfoliation syndrome. Materials and Methods. We studied 81 patients (23 males and 58 females, the median age 76 years) and 91 control subjects (27 males and 64 females, the median age 75 years). Genotypes of the CLU polymorphisms (SNPs), rs3087554 and rs2279590, were determined using a commercially available validated genotyping assays. The χ2 test was performed to compare patient and control groups for possible associations between SNP genotype/allele frequency and disease state. Results. There were no significant differences for both allele and genotype frequencies between PEX patients and controls for rs3087554 and rs2279590 polymorphisms. The haplotypes distribution shows statistically significant difference between groups p=0.03. The haplotype (CT) more often was found in controls than in PEX patients, conferring an 18-fold decreased risk to the disease. Conclusion. Our results indicate that CLU variants may contribute to the risk of PEX in the Polish population.

Ventilatory responses at rest and during exercise in marathon runners

1982 ◽  
Vol 52 (2) ◽  
pp. 388-392 ◽  
Author(s):  
D. A. Mahler ◽  
E. D. Moritz ◽  
J. Loke
Keyword(s):  
Endurance Athletes ◽  
Marathon Running ◽  
Ventilatory Control ◽  
Marathon Runners ◽  
Ventilatory Responses ◽  
Control Subjects ◽  
Exercise Ventilation ◽  
And Control ◽  
Hypercapnic Response ◽  
Rest And Exercise

Diminished ventilatory responsiveness to hypercapnia and hypoxia has been reported in athletes, but whether reduced chemosensitivity might lessen hyperpnea during exercise and facilitate performance is unknown. To evaluate ventilatory control and its possible role in athletic performance, we prospectively measured ventilatory responses to hypercapnia and hypoxia at rest and ventilatory equivalents for carbon dioxide (VE/VCO2) and oxygen (VE/VO2) during exercise in 20 accomplished marathon (42.2 km) runners (RUN) and 20 control subjects (CON). The athletes (mean age 27.8, range 18–41 yr) were all experienced runners with a mean best marathon time of 2 h, 36 min (range 2:142:55). There were no significant differences in the ventilatory responses at rest to hypercapnia (RUN, 2.23 +/- 0.73 vs. CON, 2.61 +/- 1.05 l X min-1 X Torr-1) and hypoxia (RUN, 0.57 +/- 0.40 vs. CON, 0.88 +/- 0.72 l X min-1 X 1% desat-1) (mean +/- SD). Similarly, there were no significant differences in VE/VCO2 and VE/VO2 between the two groups. Good correlation (r = 0.68; P less than 0.01) was observed between hypercapnic response at rest and exercise ventilation (VE/VCO2) in RUN. However, both hypercapnic and hypoxic ventilatory responses correlated poorly with marathon running time. These results demonstrate no differences in ventilatory responses at rest and during exercise between marathon runners and control subjects. The range of ventilatory responsiveness observed in this group of marathon runners indicates that a spectrum of ventilatory control is present in well-trained endurance athletes.

scholarly journals Oral Metformin Treatment Counteracts Adipoinsular Axis Dysfunction in Hypothalamic Obese Rats

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Daniel Castrogiovanni ◽  
Luisina Ongaro ◽  
Guillermina Zuburía ◽  
Andrés Giovambattista ◽  
Eduardo Spinedi
Keyword(s):  
Low Dose ◽  
Cushing Syndrome ◽  
Mrna Level ◽  
Mrna Levels ◽  
Metformin Treatment ◽  
Treatment Conditions ◽  
Catch Up ◽  
Visceral Adipose ◽  
And Control ◽  
Lps Treatment

Rats neonatally treated with monosodium L-glutamate (MSG) are deeply dysfunctional in adulthood. We explored the effect of an oral low dose of metformin treatment in male MSG rats on adipoinsular axis and visceral adipose tissue (VAT) dysfunctions, in both basal (nonfasting) and endotoxemia conditions. MSG rats, treated or not treated with metformin (30 days prior to experimentation), and control litter-mates (CTR) were studied at 90 days of age. Peripheral concentrations of glucose, lipids, and hormones were determined in basal and post-lipopolysaccharide (LPS) treatment conditions. Food intake and body weight (BW) were recorded and VAT mass and leptin mRNA levels were evaluated. Data indicated that MSG rats were lighter and displayed hypercorticosteronemia, hypophagia, adipoinsular axis hyperactivity, and enhanced VAT mass associated with an increased leptin gene expression. Interestingly, metformin-treated MSG rats corrected BW catch-up and counteracted VAT (mass and leptin mRNA level) and adipoinsular axis (basal and post-LPS) dysfunctions. Thus metformin treatment in MSG rats is able to correct several VAT and metabolic-endocrine dysfunctions. Our study suggests that a low-dose metformintherapy is effective to correct, at least in part, adipoinsular axis dysfunction in hypertrophic obese phenotypes, such as that of the human Cushing syndrome.

scholarly journals Defects at the Posttranscriptional Level Account for the Low TCRζ Chain Expression Detected in Gastric Cancer Independently of Caspase-3 Activity

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Ana Aguinaga-Barrilero ◽  
Patricia Castro-Sánchez ◽  
Ignacio Juárez ◽  
Alberto Gutiérrez-Calvo ◽  
Noelia Rodríguez-Pérez ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
Caspase 3 ◽  
Mrna Levels ◽  
Cdna Sequencing ◽  
Control Subjects ◽  
Inflammatory Conditions ◽  
Cell Extracts ◽  
And Control ◽  
Posttranscriptional Level

Background. Reduced TCRζ chain surface has been reported in T cells from patients with different inflammatory conditions and cancer. However, the causes of this diminished expression in cancer remain elusive. Methods. T cell-enriched populations of blood or tissue (tumoral and nontumoral) origin from 44 patients with gastric adenocarcinoma and 33 healthy subjects were obtained. Samples were subjected to cytofluorimetry, Western blot analysis, TCRζ cDNA sequencing experiments, measurement of TCRζ mRNA levels, and caspase-3 activity assays. Results. Cytofluorimetry revealed a decreased TCRζ expression in T cells of patients, assessed either as percentage of cells expressing this chain (blood: control subjects 99.8 ± 0.1 % , patients 98.8 ± 1.1 % P < 0.001 ; tissue: control subjects 96.7 ± 0.9 % , patients tumoral tissue 67.9 ± 27.0 % , patients nontumoral tissue 82.8 ± 12.6 % , P = 0.019 ) or mean fluorescence intensity (MFI) value (blood: control subjects 102.2 ± 26.0 ; patients 58.0 ± 12.3 , P = 0.001 ; tissue: control subjects 99.4 ± 21.4 ; patients tumoral tissue 41.6 ± 21.4 ; patients nontumoral tissue 62.3 ± 16.6 , P = 0.001 ). Other chains pertaining to the TCR-CD3 complex (CD3ε) showed no significant differences (MFI values). Subsequent TCRζ cDNA sequencing experiments or measurements of TCRζ mRNA levels disclosed no differences between patients and control subjects. Evaluation of caspase-3 activity showed higher levels in T cell extracts of patients, and this activity could be decreased by 70% with the use of the inhibitor Ac-DEVD-FMK, although CD3ζ expression levels did not recover. Conclusions. These results further place the defect responsible for the low TCRζ expression in cancer at the posttranscriptional level and suggests contrary to what has been proposed in other pathologies that elevated caspase-3 activity is not the causative agent.

scholarly journals Expression of the glucose transporter GLUT4 in the muscular dystrophic mdx mouse

1993 ◽  
Vol 291 (1) ◽  
pp. 257-261 ◽  
Author(s):  
C Olichon-Berthe ◽  
N Gautier ◽  
E Van Obberghen ◽  
Y Le Marchand-Brustel
Keyword(s):  
Skeletal Muscle ◽  
Plasma Membranes ◽  
Glucose Transporter ◽  
Mrna Level ◽  
Mdx Mouse ◽  
Mdx Mice ◽  
Mrna Levels ◽  
Skeletal Tissue ◽  
Muscle Tissues ◽  
And Control

Glucose transporter protein levels have been investigated in mdx and control (C57Bl/10) mice. Crude membrane fractions (microsomes plus plasma membranes) were prepared from skeletal muscle, heart, diaphragm and brain of 5-6-week-old and 6-7-month-old control and mdx mice. Using Western blot analysis with C-terminal-specific anti-peptide antibodies, we investigated the glucose transporters GLUT4 in the different muscle tissues and GLUT1 in brain. In skeletal tissue from the hindlegs, GLUT4 was increased by approximately 55% in mdx mice compared with control mice at both ages studied. In the diaphragm, the amount of GLUT4 protein was unchanged in young mdx mice, and was decreased by 37.4 +/- 4.7% in older mice compared with age-matched control mice. No difference was observed between mdx and control mice in the amounts of GLUT4 and GLUT1 in heart and brain preparations respectively. To determine whether the change in GLUT4 protein observed in the diaphragm and skeletal muscle of mdx mice was regulated through changes at the level of glucose transporter mRNA, Northern blot analyses were performed. In skeletal muscle, GLUT4 mRNA level per tissue was not different between the two groups of mice at both ages studied. In contrast, the decrease in the amount of GLUT4 protein observed in the diaphragm of 6-7-month-old mdx mice was accompanied by a decrease in the GLUT4 mRNA level. In conclusion, the levels of GLUT4 protein were modified in muscle tissues from mdx compared with control mice, and these modifications were different depending on the muscle involved and the age of the mice. An increase in the amount of GLUT4 protein in the skeletal muscle of mdx mice was not due to changes at the mRNA level. The diaphragms of 6-7-month-old mdx mice exhibited decreases in GLUT4 protein and mRNA levels that were not detected in young animals (5-6 weeks old).

The Effects of a Neutral Stimulus (Buzzer) on Motor Responses and Disfluencies in Normal Speakers

1969 ◽  
Vol 12 (1) ◽  
pp. 179-184 ◽  
Author(s):  
Richard R. Martin ◽  
Gerald M. Siegel
Keyword(s):  
College Students ◽  
Neutral Stimulus ◽  
Motor Responses ◽  
Control Subjects ◽  
And Control ◽  
Speaking Task

Seventy-two college students were divided into three groups: Button Push-Speech (BP-S), Speech-Button Push (S-BP), and Control. BP-S subjects pushed one of two buttons on signal for 8 min. During the last 4 min, depression of the criterion button caused a buzzer to sound. After the button-push task, subjects spoke spontaneously for 30 min. During the last 20 min, the buzzer was presented contingent upon each disfluency. S-BP subjects were run under the same procedures, but the order of button-push and speech tasks was reversed. Control subjects followed the same procedures as S-BP subjects, but no buzzer signal was presented at any time. Both S-BP and BP-S subjects emitted significantly fewer disfluencies during the last 20 min (Conditioning) than during the first 10 min (Baserate) of the speaking task. The frequency of disfluencies for Control subjects did not change significantly from Baserate to Conditioning. In none of the three groups did the frequency of pushes on the criterion button change significantly from minute to minute throughout the 8-min button-push session.

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