The Role of Genetic Profile in Functional Performance Adaptations to Exercise Training or Physical Activity: A Systematic Review of the Literature

2019 ◽  
Vol 27 (4) ◽  
pp. 594-616 ◽  
Author(s):  
Guy C. Wilson ◽  
Yorgi Mavros ◽  
Lotti Tajouri ◽  
Maria Fiatarone Singh
Keyword(s):  
Physical Activity ◽  
Performance Test ◽  
Functional Performance ◽  
Experimental Studies ◽  
Genetic Profile ◽  
Nucleotide Polymorphisms ◽  
Tnf Α ◽  
Musculoskeletal Function ◽  
Test Outcomes

Background:Variations in genotype may contribute to heterogeneity in functional adaptations to exercise.Methods:A systematic search of eight databases was conducted, and 9,696 citations were screened.Results:Eight citations from seven studies measuring 10 single-nucleotide polymorphisms and nine different functional performance test outcomes were included in the review. There was one observational study of physical activity and six experimental studies of aerobic or resistance training. The ACE (D) allele, ACTN3 (RR) genotype, UCP2 (GG) genotype, IL-6-174 (GG) genotype, TNF-α-308 (GG) genotype, and IL-10-1082 (GG) genotype all predicted significantly superior adaptations in at least one functional outcome in older men and women after prescribed exercise or in those with higher levels of physical activity.Conclusion:There is a small amount of evidence that older adults may have better functional outcomes after exercise/physical activity if they have specific alleles related to musculoskeletal function or inflammation. However, more robust trials are needed.

scholarly journals N-Acetylcysteine (NAC): Impacts on Human Health

Antioxidants ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 967
Author(s):  
Micaely Cristina dos Santos Tenório ◽  
Nayara Gomes Graciliano ◽  
Fabiana Andréa Moura ◽  
Alane Cabral Menezes de Oliveira ◽  
Marília Oliveira Fonseca Goulart
Keyword(s):  
Human Health ◽  
Therapeutic Potential ◽  
Experimental Studies ◽  
Primary Role ◽  
Necrosis Factor Alpha ◽  
Biochemical Basis ◽  
Tnf Α ◽  
Factor Alpha ◽  
Anti Inflammatory

N-acetylcysteine (NAC) is a medicine widely used to treat paracetamol overdose and as a mucolytic compound. It has a well-established safety profile, and its toxicity is uncommon and dependent on the route of administration and high dosages. Its remarkable antioxidant and anti-inflammatory capacity is the biochemical basis used to treat several diseases related to oxidative stress and inflammation. The primary role of NAC as an antioxidant stems from its ability to increase the intracellular concentration of glutathione (GSH), which is the most crucial biothiol responsible for cellular redox imbalance. As an anti-inflammatory compound, NAC can reduce levels of tumor necrosis factor-alpha (TNF-α) and interleukins (IL-6 and IL-1β) by suppressing the activity of nuclear factor kappa B (NF-κB). Despite NAC’s relevant therapeutic potential, in several experimental studies, its effectiveness in clinical trials, addressing different pathological conditions, is still limited. Thus, the purpose of this chapter is to provide an overview of the medicinal effects and applications of NAC to human health based on current therapeutic evidence.

Why dysfunctional expectations in depression persist – Results from two experimental studies investigating cognitive immunization

2018 ◽  
Vol 49 (09) ◽  
pp. 1532-1544 ◽  
Author(s):  
Tobias Kube ◽  
Winfried Rief ◽  
Mario Gollwitzer ◽  
Thomas Gärtner ◽  
Julia Anna Glombiewski
Keyword(s):  
Performance Test ◽  
Cognitive Reappraisal ◽  
Experimental Studies ◽  
Healthy Individuals ◽  
Performance Expectations ◽  
Major Depressive ◽  
Psychotherapeutic Interventions ◽  
Disconfirming Evidence ◽  
Negative Expectations

AbstractBackgroundResearch has revealed that negative expectations impact depressive symptoms. However, research on the change of dysfunctional expectations in depression is lacking so far. Therefore, the present research aimed to fill this gap by testing the hypothesis that people with the major depressive disorder (MDD), contrary to healthy individuals, maintain their expectations despite experiences that positively disconfirm expectations. Further, it was hypothesized that cognitive immunization (a cognitive reappraisal of the disconfirming evidence) is a mechanism underlying the persistence of expectations.MethodIn Study 1, we compared individuals with MDD (N = 58) to healthy individuals (N = 59). Participants worked on the same performance test and received standardized feedback that either confirmed or disconfirmed their initial performance expectations. In Study 2, we investigated the effects of cognitive immunization on expectation change among 59 individuals reporting elevated levels of depression by varying the appraisal of expectation-disconfirming feedback.ResultsResults from Study 1 show that in the expectation-disconfirming condition, healthy individuals changed their expectations, whereas individuals with MDD did not. No such difference between the two groups was found for expectation-confirming feedback. Results from Study 2 indicated that varying cognitive immunization impacted expectation change, thus suggesting a crucial role of cognitive immunization in expectation change.ConclusionsThese two studies indicated that individuals suffering from depression have more difficulties in changing their expectations after disconfirming experiences than do healthy individuals, and cognitive immunization might be a core mechanism underlying expectation persistence. Therefore, psychotherapeutic interventions should aim to inhibit cognitive immunization processes to enhance expectation change.

scholarly journals Functional impact of allelic variations/haplotypes of TNF-α on reproductive tract infections in Indian women

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Vineeta Sharma ◽  
Subash Chandra Sonkar ◽  
Pallavi Singhal ◽  
Anoop Kumar ◽  
Rakesh Kumar Singh ◽  
...  
Keyword(s):  
Functional Role ◽  
Reproductive Tract ◽  
Nucleotide Polymorphisms ◽  
Reproductive Tract Infections ◽  
Confounding Bias ◽  
Tnf Α ◽  
Major Player ◽  
Tract Infections ◽  
Allelic Variations

AbstractThe aim of the present study is to investigate the functional role of TNF-α single-nucleotide polymorphisms/haplotypes in an association with reproductive tract infections (RTIs) in symptomatic and asymptomatic women. A total of 850 consecutive subjects consisting of 400 cases and 450 healthy controls, were screened for RTIs, along with their risk factors and associated symptoms. The propensity score matching was performed to reduce the confounding bias arise owing to covariates and to balance the data between two groups. A total of 211 pairs (1:1) have been created. Genotyping of rs1800629 (-308) and rs361525 (-238) SNPs of TNF-α was done by PCR–RFLP followed by sequencing. The functional implication of TNF-α SNPs in an association with RTIs was also checked by using ELISA. The frequency of -238A allele and -308A allele was found to be twofold (P < 0.0001) and threefold (P < 0.0001) higher in the presence of RTIs. AA haplotype emerged as a major player in an association with RTIs and elevated TNF-α expression. The present study revealed the functional role of rs1800629 (-308) and rs361525 (-238) of TNF-α in an association with RTIs. This information may be used to establish biomarkers for an inflammatory response during the persistence of RTIs.

scholarly journals Polymorphic Variants of TNFR2 Gene in Schizophrenia and Its Interaction with -308G/A TNF-α Gene Polymorphism

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Renata Suchanek-Raif ◽  
Paweł Raif ◽  
Małgorzata Kowalczyk ◽  
Monika Paul-Samojedny ◽  
Krzysztof Kucia ◽  
...  
Keyword(s):  
Factor Model ◽  
Five Factor Model ◽  
Paranoid Schizophrenia ◽  
Tumor Necrosis Factor Receptor ◽  
Caucasian Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tnf Α ◽  
Strong Candidate

Aim. Many data showed a role of inflammation and dysfunction of immune system as important factors in the risk of schizophrenia. The TNFR2 receptor is a molecule that adapts to both areas. Tumor necrosis factor receptor 2 (TNFR2) is a receptor for the TNF-α cytokine which is a strong candidate gene for schizophrenia. The serum level of TNFR2 was significantly increased in schizophrenia and associated with more severe symptoms of schizophrenia. Methods. We examined the association of the three single nucleotide polymorphisms (rs3397, rs1061622, and rs1061624) in TNFR2 gene with a predisposition to and psychopathology of paranoid schizophrenia in Caucasian population. The psychopathology was measured by a five-factor model of the PANSS scale. We also assessed a haplotype analysis with the -308G/A of TNF-α gene. Results. Our case-control study (401 patients and 657 controls) revealed that the genetic variants of rs3397, rs1061622, and rs1061624 in the TNFR2 gene are associated with a higher risk of developing schizophrenia and more severe course in men. However, the genotypes with polymorphic allele for rs3397 SNP are protective for women. The rs1061624 SNP might modulate the appearance of the disease in relatives of people with schizophrenia. The CTGG haplotype build with tested SNPs of TNFR2 and SNP -308G/A of TNF-α has an association with a risk of schizophrenia in Caucasian population depending on sex. Our finding is especially true for the paranoid subtypes of schizophrenia.

scholarly journals Pathogenetic role of tumor necrosis factor (TNF-α) for the development of peritoneal tuberculosis in an experiment

2021 ◽  
Vol 6 (5) ◽  
pp. 184-195
Author(s):  
D. V. Plotkin ◽  
T. I. Vinogradova ◽  
M. N. Reshetnikov ◽  
Yu. R. Zyuzya ◽  
S. V. Okovityi ◽  
...  
Keyword(s):  
Abdominal Cavity ◽  
Experimental Studies ◽  
Tuberculous Peritonitis ◽  
Lung Damage ◽  
Laboratory Animals ◽  
Control Group ◽  
Peritoneal Tuberculosis ◽  
Leading Role ◽  
Tnf Α

Currently tuberculosis is considered as a group of diseases united by one etiological factor. The pathogenesis of certain localizations of tuberculous inflammation, in particular peritoneum tuberculosis, hasn’t been sufficiently studied. The role of cytokine mechanisms in the development of the disease and the elaboration of non-sterile immunity requires further experimental studies, in particular the creation of a reproducible model on laboratory animals.The aim: to study the effect of TNF-α on the development of tuberculosis of the serous coat of the abdominal cavity, as well as to evaluate the possibility of modeling tuberculous peritonitis in laboratory animals using infliximab.Materials and methods. The studies were conducted on 18 male rabbits, which were simulated peritoneal tuberculosis by intra-abdominal administration of a suspension of Mycobacterium tuberculosis. 10 rabbits of the experimental group were intravenously injected with an infliximab solution and an iron (III) hydroxide sucrose complex intraperitoneally a day before infection.Results. In the control group of animals, tuberculosis either didn’t develop, or in a third of cases it affected only the pulmonary parenchyma, while proliferative processes prevailed. On the contrary, in animals with inactivated TNF-α, in 100 % of observations, tuberculous peritonitis was detected with associated lung damage and the predominance of alterative caseous processes.Conclusion. The created model of tuberculous peritonitis shows the leading role of TNF-α in the activation of macrophages, as well as in attracting cells to the site of infection. This is the primary signal necessary for the formation and stability of granulomas since the neutralization of this cytokine leads to a loss of control over the infection and the destruction of the granuloma with the development of destructive tuberculosis in the serous coat of the abdominal cavity. 

scholarly journals Tumor necrosis factor (TNF)-α gene +489 polymorphisms: association with psoriatic arthritis

2013 ◽  
Vol 86 (1) ◽  
Author(s):  
G. Murdaca ◽  
F. Puppo
Keyword(s):  
Psoriatic Arthritis ◽  
Tumor Necrosis Factor ◽  
Single Nucleotide Polymorphisms ◽  
Tumor Necrosis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tnf Α ◽  
The Difference ◽  
Necrosis Factor

Objective of this work was to investigate the role of single nucleotide polymorphisms (SNPs) at position +489 of the tumor necrosis factor (TNF)-α gene in generic susceptibility and severity of psoriatic arthritis (PsA). Fifty-seven Caucasian PsA patients diagnosed according to CASPAR criteria and 155 healthy matched controls were studied. PASI score, DAS28 and Disability INdex HAQ were calculated. Genomic DNA was extracted from peripheral blood samples and SNPs +489 G&gt;A (rs 80267959) were amplified by PCR. The SNP +489 genotype was significantly associated with PsA susceptibility (p=0.0136) and severity of clinical and laboratory parameters (p values ranging from 0.016 to 2.908 x 10-12). The difference in severity was accounted for by the difference between the AA and GA genotypes with respect to the GG genotype. These findings suggest that TNF-α gene polymorphisms may influence PsA susceptibility and severity. Psoriatics arthritis (PsA) is a complex immunemediated disease that results from the interplay between multiple genetic and environmental factor [1]. Although the pathogenesis of PsA remains elusive, there is evidence that genetic factors may contribute to the etiology of the disease [2]. Is has been estimated that at least one third of the genetic contribution to PsA resides in the major histocompatibility complex (MHC) region [2]. The tumor necrosis factor (TNF)-α gene, which is located in the short arm of chromosome 6 in the MHC class III region between the HLA-B and HLA-DR genes, has been proposed as a major candidate gene in PsA [3]. This hypothesis is supported by studies which have found high serum, synovial fluid and synovial membrane TNF-α levels in patients with PsA [4,5]. Several single nucleotide polymorphisms (PNPs) have been identified in the TNF-α gene promoter [6]. In particular, two common polymorphisms, namely G to A substitutions at positions -238 and -308 have been studied in patients with PsA. However, association studies of these two TNF-α polymorphisms and genetic susceptibility to PsA have lead to conflicting results [7-12]. Previous studies have indicated the potential role of the SNP at +489 position in the first intron of the TNF-α gene in the susceptibility to some rheumatic autoimmune diseases like rheumatoid arthritis [13], systemic lupus erythematosus [14] and systemic sclerosis [15]. However, to our present knowledge, studies on the association of +489 polymorphism with PsA susceptibility and response to TNF-α inhibitors are not reported in the literature. Is this study we investigated the role of SNPs at +489 within the TNF-α gene in PsA susceptibility and severity.

Strains of Epstein-Barr virus infecting multiple sclerosis patients

2010 ◽  
Vol 16 (6) ◽  
pp. 643-651 ◽  
Author(s):  
RM Brennan ◽  
JM Burrows ◽  
MJ Bell ◽  
L. Bromham ◽  
PA Csurhes ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Epstein Barr Virus ◽  
Experimental Studies ◽  
Nucleotide Polymorphisms ◽  
Barr Virus ◽  
Genes Encoding ◽  
Epstein Barr ◽  
Multiple Sclerosis Patients ◽  
Ebna1 Gene

Both epidemiological and experimental studies have indicated that the ubiquitous herpesvirus Epstein—Barr virus (EBV) plays a role in the pathogenesis of multiple sclerosis (MS). Some features of MS epidemiology, such as the decline in risk among migrants from high to low MS prevalence areas, suggest the presence of variant EBV strains that increase MS risk. The objective of this study was to investigate whether genetic variability in EBV is associated with MS. Genes encoding for two EBV antigens (EBNA1 and BRRF2) were sequenced in EBV isolates from 40 MS patients and a similar number of control subjects. These viral antigens were chosen for analysis because they are known to stimulate atypical immune responses in MS. Extensive sequence polymorphism was observed within the EBNA1 and BRRF2 genes in isolates from both MS patients and controls. Interestingly, several single nucleotide polymorphisms within the EBNA1 gene, and one within the BRRF2 gene, were found to occur at marginally different frequencies in EBV strains infecting MS patients versus controls. Although this study does not find a simple causal relationship between EBV strains and the occurrence of MS, the existence of haplotypes that occur at different frequencies in MS patients versus controls may provide an area for future study of the role of EBV strain variation in multiple sclerosis.

The role of physical exercise in the development of breast cancer

Physiotherapy ◽  
2015 ◽  
Vol 23 (3) ◽  
Author(s):  
Agata Adasik
Keyword(s):  
Breast Cancer ◽  
Physical Activity ◽  
Physical Exercise ◽  
Scientific Evidence ◽  
Experimental Studies ◽  
Experimental Models ◽  
Protective Effects ◽  
Oncological Treatment ◽  
Beneficial Effects

AbstractBreast cancer is one of the most common types of cancer among women worldwide. Epidemiological and experimental studies confirm the beneficial effects of physical exercise both in patients who have suffered a relapse and in those who are in the course of a treatment. Researchers suggest that regular physical effort performed 3-5 times a week at 20-40 MET reduces the risk of development of breast cancer. Scientific evidence suggests that aerobic training can be safe and effective even during the oncological treatment, which, depending on the stage of the disease, may consist of surgical treatment combined with chemotherapy, radiotherapy or hormone therapy. In addition, it significantly improves the function of the circulatory and respiratory systems, reduces fatigue and improves the quality of life of patients struggling with the disease. There are many theories on the mechanisms that are triggered by aerobic workout. Despite the numerous studies on this subject, which have been conducted over the years, we still cannot say how physical activity reduces the risk of development of breast cancer. The most frequently mentioned biological mechanisms include the influence of oestrogen, metabolic hormones, growth factor, inflammatory markers, response from the immune system, insulin resistance and oxidative stress. Many studies into the process of carcinogenesis are carried out in laboratory conditions on animals. Due to application of different experimental models, the results of such studies are often ambiguous. Nevertheless, scientists see a huge potential in this kind of experiments, because some of them have already attested to the protective effects of physical exercise against the appearance of breast cancer, but also they have increased our understanding of the processes through which this risk is reduced. Perhaps, in the future physical activity will become a part of a cancer treatment thanks to the results of such studies.

scholarly journals Moderate Physical Activity as a Prevention Method for Knee Osteoarthritis and the Role of Synoviocytes as Biological Key

2019 ◽  
Vol 20 (3) ◽  
pp. 511 ◽  
Author(s):  
Paola Castrogiovanni ◽  
Michelino Di Rosa ◽  
Silvia Ravalli ◽  
Alessandro Castorina ◽  
Claudia Guglielmino ◽  
...  
Keyword(s):  
Physical Activity ◽  
Cruciate Ligament ◽  
Moderate Physical Activity ◽  
Group 4 ◽  
Tnf Α ◽  
Group 3 ◽  
Group 2 ◽  
Prevention Method ◽  
Anterior Cruciate

The purpose of this study was to investigate the influence of moderate physical activity (MPA) on the expression of osteoarthritis (OA)-related (IL-1β, IL-6, TNF-α, MMP-13) and anti-inflammatory and chondroprotective (IL-4, IL-10, lubricin) biomarkers in the synovium of an OA-induced rat model. A total of 32 rats were divided into four groups: Control rats (Group 1); rats performing MPA (Group 2); anterior cruciate ligament transection (ACLT)-rats with OA (Group 3); and, ACLT-rats performing MPA (Group 4). Analyses were performed using Hematoxylin & Eosin (H&E) staining, histomorphometry and immunohistochemistry. In Group 3, OA biomarkers were significantly increased, whereas, IL-4, IL-10, and lubricin were significantly lower than in the other experimental groups. We hypothesize that MPA might partake in rescuing type B synoviocyte dysfunction at the early stages of OA, delaying the progression of the disease.

Polymorphisms interaction to predict bevacizumab (BV) efficacy in metastatic breast cancer (MBC) patients (pts): An exploratory retrospective analysis.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1086-1086
Author(s):  
Luigi Coltelli ◽  
Andrea Fontana ◽  
Guido Bocci ◽  
Andrea Camerini ◽  
Antonella Ferro ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Genetic Interaction ◽  
Metastatic Breast ◽  
Genetic Profile ◽  
Nucleotide Polymorphisms ◽  
Non Profit ◽  
Hormone Receptor Positive ◽  
Ecog Ps

1086 Background: Previous retrospective studies have attempted to identify a possible role of VEGF single nucleotide polymorphisms (SNPs) to predict BV efficacy in terms of OS and PFS in MBC pts with conflicting results (Schneider 2008, Grimaldi 2011, Lambrechts 2011). Methods: On the basis of these preliminary data, we decided to assess in a MBC population if different VEGF, VEGFR-2, IL-8, IL-6, HIF-1alfa, EPAS-1 and TSP-1 genotypes could predict first line BV + paclitaxel (P) response in terms both of OS and PFS. Analyses were performed on germline DNA obtained from blood samples. Fourteen polymorphisms were investigated by real-time PCR technique. Both single and combinations of SNPs were investigated. The multifactor dimensionality reduction (MDR) methodology was applied to identify a genetic interaction profile for PFS ( http://sourgeforge.net/projects/mdr/ ). Results: 102 pts have been enrolled from 8 Oncology Units. Main pts characteristics are: median age 59 years (range 32-81), ECOG-PS 0/1 in 78%/22%, hormone receptor positive 83%, previous adjuvant chemotherapy 68%, disease free interval (DFI) < 12 months 27%. After a median follow up of 17.4 months (1.9-54.7), mPFS was 11.6 months (95% CI: 10.6-12.6) and mOS was 32.4 months (95% CI: 25.9-38.9). None of SNPs were individually associated with PFS. Conversely, a genetic interaction profile consisting of VEGFR-2 rs11133360 and IL-8 rs4073 was significantly associated with PFS. mPFS was 14 months (95% CI: 11.7-16.3) and 10.9 months (95% CI: 9.3-12.4) for the favorable and unfavorable genetic profile, respectively (HR=0.63, 95% CI: 0.4-0-99, p= 0.046). Furthermore, at the multivariate analysis hormone receptor positive (HR=0.22, 95% CI: 0.12-0-41, p<0.0001), DFI >12 months (HR= 0.4, 95% CI: 0.2-0.82, p= 0.011) and BV maintenance (HR=0.63, 95% CI: 0.25.0.71, p=0.001) were significantly associated with a better PFS. Conclusions: Genetic interaction between VEGFR-2 rs11133360 and IL-8 rs4073 polymorphisms could predict BV response in terms of PFS. With a longer follow-up correlations with OS will be investigated. Prospective study is planned. Study supported by the non-profit foundation F.A.R.O.

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