Publications by authors named "Mastana S"

Background: The I/D polymorphism has been suggested to be associated with multiple chronic diseases and sports modalities, which has public health implications for global populations and sport performance. This updated review aims to strengthen the association and identify sporting disciplines that are most influenced by the gene polymorphism using a meta-analysis approach.

Methods: Published studies on the association between the I/D polymorphism and elite endurance and power were collected until 15 June 2024.

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Bone remodeling is an intricate process executed throughout one's whole life via the cross-talk of several cellular events, progenitor cells and signaling pathways. It is an imperative mechanism for regaining bone loss, recovering damaged tissue and repairing fractures. To achieve this, molecular signaling pathways play a central role in regulating pathological and causal mechanisms in different diseases.

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Article Synopsis
  • - Rheumatoid arthritis (RA) is an autoimmune disease that affects joint movement and has a strong genetic component, with many genes linked to its risk identified through genome-wide association studies (GWAS).
  • - The study aimed to evaluate specific genetic polymorphisms related to RA and create a polygenic risk score (PRS) to assess genetic contributions to the disease.
  • - Results showed significant associations with RA risk from specific genetic markers, and the PRS was notably higher in RA patients compared to controls, indicating its potential use in personalized medicine and prevention strategies.
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This systematic review aims to assess the genetic determinants influencing combat sports performance and address potential gaps in previous reviews. Twenty-four selected studies were analysed, investigating genetic influences on physiological performance, psychological traits, psychophysiological factors like pain perception, and injury susceptibility in combat sport athletes. The systematic literature search, using keywords, encompassed PubMed, Scopus, SportDiscus, Medline, and Google Scholar.

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  • - Coronary artery disease (CAD) is a major health issue in India, and this study looked at ten genetic polymorphisms affecting oxidative stress, blood pressure, and lipid metabolism in the Jat Sikh population to understand their link to CAD risk.
  • - The research found that seven of these polymorphisms, specifically M235T, T174M, and A1166C, showed significant associations with increased CAD risk, with some haplotypes linked to higher risk even when accounting for other factors.
  • - A higher polygenic risk score indicated a nearly double risk of developing CAD, highlighting important genetic factors for potential clinical and public health strategies in preventing and managing coronary artery disease.
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Background: Female athletic performance and injury risk is impacted by variations in the menstrual cycle (MC), but the understanding of the impacts and mechanisms influenced by the menstrual cycle on exercise performance are not fully delineated.

Aims And Objectives: Evaluate associations between the menstrual cycle, perceived performance, and injury risk of elite female rugby players using an online survey.

Methods: An anonymous online questionnaire was completed by 150 elite female rugby players from two English rugby leagues, the Betfred Women's Super League (BWSL) and the Allianz Premier 15s (AP15s).

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The global statistics of bone disorders, skeletal defects, and fractures are frightening. Several therapeutic strategies are being used to fix them; however, RNAi-based siRNA therapy is starting to prove to be a promising approach for the prevention of bone disorders because of its advanced capabilities to deliver siRNA or siRNA drug conjugate to the target tissue. Despite its 'bench-to-bedside' usefulness and approval by food and drug administration for five siRNA-based therapeutic medicines: Patisiran, Vutrisiran, Inclisiran, Lumasiran, and Givosiran, its use for the other diseases still remains to be resolved.

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Multiple sclerosis (MS) is a chronic and degrading autoimmune disorder mainly targeting the central nervous system, leading to progressive neurodegeneration, demyelination, and axonal damage. Current treatment options for MS are limited in efficacy, generally linked to adverse side effects, and do not offer a cure. Stem cell therapies have emerged as a promising therapeutic strategy for MS, potentially promoting remyelination, exerting immunomodulatory effects and protecting against neurodegeneration.

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Avascular necrosis of the femoral head (ANFH) is a painful disorder characterized by the cessation of blood supply to the femoral head, leading to its death and subsequent joint collapse. Influenced by several risk factors, including corticosteroid use, excessive alcohol intake, hypercholesterolemia, smoking and some inflammatory disorders, along with cancer, its clinical consequences are thrombus formation due to underlying inflammation and endothelial dysfunction, which collaborates with coagulopathy and impaired angiogenesis. Nonetheless, angiogenesis resolves the obstructed free flow of the blood by providing alternative routes.

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Thyroid cancer continues to exhibit a rising incidence globally, predominantly affecting women. Despite stable mortality rates, the unique characteristics of thyroid carcinoma warrant a distinct approach. Differentiated thyroid cancer, comprising most cases, is effectively managed through standard treatments such as thyroidectomy and radioiodine therapy.

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Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta, leading to motor symptoms such as tremors, rigidity, and bradykinesia. Current therapeutic strategies for PD are limited and mainly involve symptomatic relief, with no available treatment for the underlying causes of the disease. Therefore, there is a need for new therapeutic approaches that target the underlying pathophysiological mechanisms of PD.

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Atherosclerosis is the formation of plaque within arteries due to overt assemblage of fats, cholesterol and fibrous material causing a blockage of the free flow of blood leading to ischemia. It is harshly impinging on health statistics worldwide because of being principal cause of high morbidity and mortality for several diseases including rheumatological, heart and brain disorders. Atherosclerosis is perpetuated by pro-inflammatory and exacerbated by pro-coagulatory mediators.

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Background: Globally, type 2 diabetes mellitus (T2DM) is one of the fastest-growing noncommunicable multifactorial and polygenic diseases, which leads to many health complications and significant morbidity and mortality. South Asians have a high genetic predisposition to T2DM, with India being home to one in six diabetics. This study investigates the association of selected genetic polymorphisms with T2DM risk and develops a polygenic risk score (PRS).

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Physical inactivity and a poor diet increase systemic inflammation, while chronic inflammation can be reduced through exercise and nutritional interventions. The mechanisms underlying the impacts of lifestyle interventions on inflammation remain to be fully explained; however, epigenetic modifications may be critical. The purpose of our study was to investigate the impacts of eccentric resistance exercise and fatty acid supplementation on DNA methylation and mRNA expression of and in skeletal muscle and leukocytes.

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Autophagy is essential in regulating the turnover of macromolecules via removing damaged organelles, misfolded proteins in various tissues, including liver, skeletal muscles, and adipose tissue to maintain the cellular homeostasis. In these tissues, a specific type of autophagy maintains the accumulation of lipid droplets which is directly related to obesity and the development of insulin resistance. It appears to play a protective role in a normal physiological environment by eliminating the invading pathogens, protein aggregates, and damaged organelles and generating energy and new building blocks by recycling the cellular components.

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Background: insertions are bi-allelic and primate-specific, this makes them a useful marker for studying genetic variation, migration patterns, forensic analyses, paternity, and evolutionary heritage; however, specific population studies are limited.

Aim: The objective of this study is to document the level and extent of genetic variation at 39 different loci in five populations (British, Indian Punjabi, Indian Gujarati, Pakistani, and Bangladeshi) from the East Midlands region of the UK. Genetic data on migrant populations is currently limited.

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Introduction: South Asians (SAs) have an elevated risk of cardiovascular disease (CVD) compared with White Europeans (WEs). Postprandial endothelial function (flow-mediated dilatation (FMD%)) in SA women and SA men with central obesity has not been investigated. Research in other populations has highlighted that a 1% higher FMD% is associated with a ~13% lower risk of future CVD events.

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Despite strong genetic implications of NLRP3 inflammasome, its examination as genetic determinant of ischaemic stroke (IS) remains to be done in Punjab, which has been investigated in this study. In this case control study, 400 subjects (200 IS patients, 200 stroke free controls) were included. Contributions of 5 single nucleotide polymorphisms (SNPs) including a functional SNP within NLRP3 gene (rs10754558, rs4612666, rs2027432, rs3738488 and rs1539019) for the risk of IS were investigated through genetic models after correcting the effect of significant variables.

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Mitochondria are the organelles that generate energy for the cells and act as biosynthetic and bioenergetic factories, vital for normal cell functioning and human health. Mitochondrial bioenergetics is considered an important measure to assess the pathogenesis of various diseases. Dysfunctional mitochondria affect or cause several conditions involving the most energy-intensive organs, including the brain, muscles, heart, and liver.

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Telomeres are dynamic structures that appear to be positively influenced by healthy lifestyle factors such as exercise. Pilates is an increasingly popular exercise modality that is reported to exert beneficial physiological effects in the body, although the cellular mechanisms are poorly understood. The aim of the present study was to investigate the influence of Pilates exercise on telomere length.

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The prevalence and predictors of osteoporosis and osteopenia remain to be examined in the postmenopausal women of Punjab, India. The present cross-sectional study screened 1628 postmenopausal women during September 2019 to March 2020. Osteoporosis and osteopenia were confirmed on the basis of T-scores using dual energy X-ray absorptiometry (DXA) at the hip (femoral neck) and lumbar spine regions (L1−L4 vertebrae).

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It is unclear how running modality influences telomere length (TL). This single laboratory visit study compared the TL of master sprinters and endurance runners with their young counterparts. The correlation between leukocyte and buccal cell TL in athletes was also explored.

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The present study attempted to investigate whether concerted contributions of significant risk variables, pro-inflammatory markers, and candidate genes translate into a predictive marker for knee osteoarthritis (KOA). The present study comprised 279 confirmed osteoarthritis patients (Kellgren and Lawrence scale >2) and 287 controls. Twenty SNPs within five genes (CRP, COL1A1, IL-6, VDR, and eNOS), four pro-inflammatory markers (interleukin-6 (IL-6), interleuin-1 beta (IL-1β), tumor necrosis factor alpha (TNF-α), and high sensitivity C-reactive protein (hsCRP)), along with significant risk variables were investigated.

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Background: Fatty acids, specifically polyunsaturated fatty acids (PUFAs) play an important role in inflammation and its resolution, however, their interaction with the epigenome is relatively unexplored. Here we investigate the relationship between circulating blood fatty acids and the DNA methylation of the cytokine encoding gene tumour necrosis factor (TNF, OMIM 191160).

Methods: Using a cross-sectional study approach, we collected blood samples from adults (N=88 (30 males, 58 females); 18-74 years old) for DNA methylation pyrosequencing analysis at four sites in TNF exon 1 and gas-chromatography mass-spectrometry analysis of the fatty acid profile of dried blood spots (DBS).

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The present study aimed to examine the participation and contribution of endothelial nitric oxide synthase (), angiotensin converting enzyme () and vascular endothelial growth factor () genes for the risk of endothelial dysfunction (ED)-associated osteoporosis risk in postmenopausal women of Punjab, India. Women with ED were categorized into women with osteoporosis (n = 346) and women without osteoporosis (n = 330). They were examined for selected SNPs within and genes.

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