Sarabjit Mastana

Loughborough University | Lough · School of Sport, Exercise and Health Sciences

Background: The ACE 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 ACE gene polymorphi...

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...

Coronary artery disease (CAD) is the leading cause of death in India. Many genetic polymorphisms play a role in regulating oxidative stress, blood pressure and lipid metabolism, contributing to the pathophysiology of CAD. This study examined the association between ten polymorphisms and CAD in the Jat Sikh population from Northern India, also consi...

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 susceptibil...

Background: Rheumatoid arthritis (RA) is a complex autoimmune disease that negatively affects synovial joints, leading to the deterioration of movement and mobility of patients. This chronic disease is considered to have a strong genetic inheritance, with genome-wide association studies (GWAS) highlighting many genetic loci associated with the dise...

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 inju...

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 t...

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...

This comprehensive compendium unravels the intricacies of three common and daunting skeletal disorders: osteoporosis, osteoarthritis, and rheumatoid arthritis. These ailments afflict people across all age groups, demanding a deeper understanding of their diagnostic, prognostic, preventive, and therapeutic dimensions. It presents seven key topics wr...

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 w...

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...

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...

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 t...

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...

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 rheumato...

Background Alu 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...

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

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 (SN...

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 involv...

The present cross-sectional study involved 300 postmenopausal women to examine the role and relevance of C-reactive protein (CRP) and nitric oxide (NO) as the biochemical determinants of osteoporosis in the population of Punjab, India. Subjects were verified having osteoporosis on the basis of dual energy x-ray absorptiometry (DEXA) testing at hip...

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...

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 t...

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. Participants consisted of 11 young controls, 11 young sprinters, 12 young...

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 wit...

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 f...

The present study aimed to examine the participation and contribution of endothelial nitric oxide synthase (eNOS), angiotensin converting enzyme (ACE) and vascular endothelial growth factor (VEGFA) genes for the risk of endothelial dysfunction (ED)-associated osteoporosis risk in postmenopausal women of Punjab, India. Women with ED were categorized...

Regular physical exercise is a known preventative measure and treatment for various chronic diseases and reduces all-cause mortality. Despite the clear benefit of exercise, globally ~ 30% of adults are classified as physically inactive. The health benefits elicited by exercise occur via cardiovascular, metabolic, and skeletal muscle adaptations. Va...

Nutri-epigenomics seeks to delineate the interactions between the diet and the genome through epigenetic mechanisms. The ability of the epigenome to adapt to environmental factors, including diet, is referred to as “plasticity” and this alters across the lifespan of an organism. Thus, there are periods during which the epigenome is more responsive...

We aimed to report sex differences in ventilation during EVH challenge in University athletes while exploring whether they achieve inspiratory target. Seventy-seven athletes (n=42 males, n=35 females) performed six-minute EVH challenge involving compressed gas (5% CO2, 21% O2 and balance N2) inhalation at an inspiratory target of 85% MVVindirect. V...

Purpose Elite athletes are reported to possess longer telomeres than their less active counterparts. ACE gene (Insertion/Deletion) polymorphism has been previously associated with elite athletic performance, with the deletion (D) variant appearing more frequently in short distance swimmers. Additionally, the D allele has been reported to have a neg...

Background: Short Tandem Repeats (STRs) are widely used in population and forensic genetic studies. Aim: The objective of this study was to document the level and extent of genetic variation of the FBI Combined DNA Index System (CODIS) STR loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX and CSF1PO) in...

Telomere dynamics are an active biological process and positive lifestyle factors such as exercise are proposed to potentiate their length. The aim of this study was to investigate the effect of a low-resistance, high-repetition resistance training intervention on leukocyte telomere length (LTL) and associated health parameters. 23 sedentary middle...

Objectives: To investigate the association of genetic polymorphisms of endothelial nitric oxide synthase (eNOS) gene with endothelial dysfunction associated osteoporosis in postmenopausal women of Punjab, India. Methods: The study involved 456 postmenopausal women having endothelial dysfunction categorized according to women with (n = 236) and w...

Background: Interleukin-6 (IL-6) gene regulates IL-6 levels, interplay of which has been found to influence pathophysiology of osteoarthritis (OA). Polymorphism within promoter region of IL-6 gene and its association with plasma levels of pro-inflammatory cytokines; IL-6, interleukin 1-beta (IL-1β) and tumor necrosis factor-alpha (TNF-α) remained...

The human genetic diversity of the Americas has been affected by several events of gene flow that have continued since the colonial era and the Atlantic slave trade. Moreover, multiple waves of migration followed by local admixture occurred in the last two centuries, the impact of which has been largely unexplored. Here, we compiled a genome-wide d...

Objective: Epigenetics has been described as one of the most exciting areas of contemporary biology, and research has begun to explore whether epigenetic modifications are influenced by psychological processes. The present research explored the associations of health-related motivation and behavior with the DNA methylation of tumor necrosis factor...

In this study, VDR gene ApaI (rs7975232), BsmI (rs 1544410) and TaqI (rs731236) genotypes were compared in men with osteoporosis and male controls. Osteoporosis affects around 20% of all men and overall mortality in the first year after hip fracture is significantly higher in men than women, yet the genetic basis of osteoporosis is less well studie...

Background: The fat mass and obesity-associated gene (FTO) rs9939609 A-allele has been associated with obesity risk. Although the exact mechanisms involved remain unknown, the FTO rs9939609 A-allele has been associated with an impaired postprandial suppression of appetite. Objectives: To explore the influence of FTO rs9939609 genotype on fasting...

Redox enzymes are ubiquitous proteins that modulate intracellular redox balance and can be secreted in response to cellular oxidative stress, potentially modulating systemic inflammation. Both aerobic and resistance exercise are known to cause acute systemic oxidative stress and inflammation; however, how redox enzyme concentrations alter in extrac...

The human genetic diversity of the Americas has been shaped by several events of gene flow that have continued since the Colonial Era and the Atlantic slave trade. Moreover, multiple waves of migration followed by local admixture occurred in the last two centuries, the impact of which has been largely unexplored. Here we compiled a genome-wide data...

Background: After meal ingestion, a series of coordinated hormone responses occur concomitantly with changes in perceived appetite. It is not known whether interindividual variability in appetite exists in response to a meal. Objectives: This study aimed to 1) assess the reproducibility of appetite responses to a meal; 2) quantify individual differ...

Lifestyle interventions, including exercise and dietary supplementation, can modify DNA methylation and exert health benefits; however, the underlying mechanisms are poorly understood. Here we investigated the impact of acute aerobic exercise and the supplementation of omega-3 polyunsaturated fatty acids (n-3 PUFA) and extra virgin olive oil (EVOO)...

Background: Coronary artery disease (CAD) is a complex metabolic disorder in which lifestyle and genetic factors are known to play key roles in pathogenesis. The paraoxonase 1 (PON1) enzyme has a defensive effect against CAD progression, as it safeguards low-density lipoproteins (LDLs) from oxidative modifications. The most extensively studied gene...

Background: Age related macular degeneration (AMD) is an ocular disease that is threatening elderly population of Punjab for vision impairment and blindness. Comprehensive understanding of the susceptible factors still remains to be explored in this region. Objective: To examine the risk variables which are independently associated with the risk of...

Background: Diabetic retinopathy (DR), an imperative sequel is posing huge threat of blindness because of substantial prevalence of diabetes in the population of Punjab. In depth understanding of its risk factors is relatively unexplored in this region. Objective: To identify the prevalence and risk predictors of diabetic retinopathy in the populat...

Background: Ectonucleotide pyrophosphatase/phosphodiesterase1 (ENPP1/PC-1) is a key modulator of the insulin signaling pathway, and its common variant, K121Q, increases the susceptibility to diabetes and cardiovascular diseases. Objectives: The main objective of the present study was to investigate the association of ENPP1 K121Q polymorphism with t...

Inflammation, oxidative stress, apoptosis and neovascularization are risky parameters which influence different phases in the pathogenesis of age related macular degeneration (AMD). Beside other mediators, this multitiered and complex event of retinal worsening has been exposed to be orchestrated by small non coding RNA fragments that bind to speci...

There is significant variation in reported associations of the MTHFR C677T (rs1801133) and A1298C (rs1801131) polymorphisms and coronary artery disease (CAD) in different global populations. This study aims to identify any individual or combined associations between the 1298 and 677 loci of MTHFR and CAD in a North Indian population. A total of 159...

This study investigated the role of IL-1β-511 (rs16944), TLR4-896 (rs4986790) and TNF-α-308 (rs1800629) polymorphisms in type 2 diabetes mellitus (T2DM) among an endogamous Northern Indian population. Four hundred fourteen participants (204 T2DM patients and 210 nondiabetic controls) were genotyped for IL-1β-511, TLR4-896 and TNF-α-308 loci. The C...

Background: Cytokines regulate the expression of inflammatory molecules which destabilize the atheromatic plaques. This study focuses on studying the association of inflammatory cytokine polymorphisms like TNF-α -308 (G/A), TNF-β +252 (A/G), IL-6 -174 (G/C) and IL-6 -597 (G/A), and IFN-ɣ +874 (T/A) with coronary artery disease (CAD) among north In...

Omega-3 polyunsaturated fatty acids (n-3 PUFAs) are known to be anti-inflammatory and to alter gene expression within the cells. Emerging evidence indicates that one of the mechanisms for this process involves the alteration of epigenetic markers, such as DNA methylation. The focus of this overview is to document the current evidence for n-3 PUFA e...

Background: Alu elements are highly researched due to their useful nature as markers in the study of human population genetics. Recently discovered Major Histocompatibility Complex (MHC) polymorphic Alu insertions (POALINs) have not been examined extensively for genetic variation and their HLA associations. Aims: The aim of this study is to assess...

Genetic variants are considered as one of the main determinants of the concentration of serum lipids and coronary artery disease (CAD). Polymorphisms in the Apolipoprotein (Apo) AI-CIII-AIV gene cluster has been known to affect the concentrations of various lipid sub-fractions and the risk of CAD. The present study assessed associations between pol...

Polymorphisms in the human apolipoprotein E gene (ApoE) have been extensively studied for associations with various complex diseases. Numerous population genetic studies have reported the distribution of ApoE alleles in global populations. In this study, we present new data on the distribution of ApoE polymorphisms among four Northeast Indian popul...

Objectives: Indian subpopulations (Chenchu, Koya, and Lobana Sikh) were analyzed at the genetic level for 12 Alu polymorphisms. These markers were then utilized to establish levels of genetic identity between the Indian populations and more widely between the Indian populations and a European population. Methods: Previously collected blood sampl...

The zeta potential of the protein corona around carboxyl particles has been measured using tunable resistive pulse sensing (TRPS). A simple and rapid assay for characterising zeta potentials within buffer, serum and plasma is presented monitoring the change, magnitude and distribution of proteins on the particle surface. First, we measure the chang...

Asthma is a common and prevalent health problem, globally affecting over 300-million individuals. Observational and intervention studies have shown beneficial effects of omega-3 (Eicosapentaenoic Acid; EPA and Docosahexaenoic acid; DHA) on asthma and exercise-induced bronchoconstriction (EIB). Due to health side-effects with pharmacological medicat...

Asthma is one of the most common and prevalent problems worldwide affecting over 300 million individuals. There is some evidence from observational and intervention studies to suggest a beneficial effect of n -3 PUFA in inflammatory diseases, specifically asthma. Marine-based n -3 PUFA have therefore been proposed as a possible complementary/altern...

The present study aimed at estimating the prevalence of metabolic syndrome (MetS) and prospectively, evaluating cardiovascular events among Asian Indians type 2 diabetic subjects. The sample comprised 1522 type 2 diabetic mellitus (T2DM) subjects aged 25-91years, who participated in the North Indian Diabetes and Cardiovascular Disease Study (NIDCVD...

Despite the rapid development of pharmacogenetic testing and the frequencies of medication related emergencies increasing, pharmacogentic testing is not yet implemented extensively in clinical practice. Several studies document that polymorphic Cytochrome P450 isoenzymes CYP2C9, CYP2C19 and CYP2D6 are responsible for the metabolism of many clinical...