Genetic predictors of match performance in sub-elite Australian football players: A pilot study

The current study aimed to determine whether previously identified candidate polymorphisms were associated with match performance in sub-elite Australian Rules Football (ARF) players. The genotypes of thirty players were analysed along with 3x1-kilometre time trial results, ARF-specific skill assessments (handball and kicking), and match performance (direct game involvements) per minute (DGIs/min) to investigate if there was a relationship between any of the variables. Results support previous findings that aerobic time trials are a significant predictor of DGIs/min in sub-elite ARF players. Significant associations were found for genotypes ADRB2 CC (p = .001), PPARGC1A AA (p = .001), PPARGC1A AG (p \u3c .001), ACE ID (p \u3c .001), COMT AA (p = .003), BDNF AG (p = .008), ADRB1 CC (p = .018) and ADRB3 CC (p = .010) and the 3x1-kilometre time trials (p \u3c .001). In the current study, a variant in the DRD2 gene was a strong predictor of handball possessions during a match. Significance was seen for variants in the BDNF and COMTgenes when the kicking and handball skill test results were combined and used in a linear mixed model to predict DGIs/min, suggesting a potential relationship with motor learning. The confirmation of genetic predictors of player performance in a team sport, such as ARF, suggests a portion of the physiological mechanisms of skill and ARF-specific talent may be explained by the expression of a specific number of genes

The potential role of genetic markers in talent identification and athlete assessment in elite sport

In elite sporting codes, the identification and promotion of future athletes into specialized talent pathways is heavily reliant upon objective physical, technical, and tactical characteristics, in addition to subjective coach assessments. Despite the availability of a plethora of assessments, the dependence on subjective forms of identification remain commonplace in most sporting codes. More recently, genetic markers, including several single nucleotide polymorphisms (SNPs), have been correlated with enhanced aerobic capacity, strength, and an overall increase in athletic ability. In this review, we discuss the effects of a number of candidate genes on athletic performance, across single-skilled and multifaceted sporting codes, and propose additional markers for the identification of motor skill acquisition and learning. While displaying some inconsistencies, both the ACE and ACTN3 polymorphisms appear to be more prevalent in strength and endurance sporting teams, and have been found to correlate to physical assessments. More recently, a number of polymorphisms reportedly correlating to athlete performance have gained attention, however inconsistent research design and varying sports make it difficult to ascertain the relevance to the wider sporting population. In elucidating the role of genetic markers in athleticism, existing talent identification protocols may significantly improve—and ultimately enable—targeted resourcing in junior talent pathways

Sleep disturbance and serum ferritin levels associate with high impulsivity and impulse control disorders in male Parkinson\u27s Disease patients

Impulse control disorders (ICDs) occur in a subset of Parkinson’s disease (PD) patients on dopaminergic medications however there are currently no reliable markers to identify patients at risk. Sleep disturbances are more common in patients with an ICD. Serum ferritin levels have been associated with PD disease stage and progression, but have not previously been associated with impulsivity levels. The objective of this study was to determine if serum ferritin levels and sleep disturbance are associated with high traits of impulsivity and ICD in a cohort of PD patients attending a movement disorders clinic. This study assessed impulsiveness in 87 PD patients using the Barratt Impulsiveness Scale. Severity of sleep disturbance was determined using the sleep-related items of the MDS-UPDRS. Serum ferritin, iron and transferrin levels were measured in patients, as well as 36 age-matched healthy controls. Serum ferritin levels were significantly elevated in male PD patients in the high impulsivity group compared to patients in the low (p=.022) and normal range groups (p=.024) and showed a linear increase across the three groups. Sleep disturbance also demonstrated a linear trend, which was most severe in the high impulsivity group (p=.030). A subgroup of 11 male PD patients who fulfilled the DSM-5 criteria for an ICD had significantly higher ferritin levels and more severe sleep disturbance when compared with the remaining male PD cohort. Serum ferritin levels and sleep disturbance severity are highlighted as potential markers for abnormal impulsivity and ICD in PD patients

Extended Timed Up and Go assessment as a clinical indicator of cognitive state in Parkinson\u27s disease

Objective: To evaluate a modified extended Timed Up and Go (extended-TUG) assessment against a panel of validated clinical assessments, as an indicator of Parkinson’s disease (PD) severity and cognitive impairment. Methods: Eighty-seven participants with idiopathic PD were sequentially recruited from a Movement Disorders Clinic. An extended-TUG assessment was employed which required participants to stand from a seated position, walk in a straight line for 7 metres, turn 180 degrees and then return to the start, in a seated position. The extended-TUG assessment duration was correlated to a panel of clinical assessments, including the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), Quality of Life (PDQ-39), Scales for Outcomes in Parkinson’s disease (SCOPA-Cog), revised Addenbrooke’s Cognitive Index (ACE-R) and Barratt’s Impulsivity Scale 11 (BIS-11). Results: Extended-TUG time was significantly correlated to MDS-UPDRS III score and to SCOPA-Cog, ACE-R (p\u3c0.001) and PDQ-39 scores (p\u3c0.01). Generalized linear models determined the extended-TUG to be a sole variable in predicting ACE-R or SCOPA-Cog scores. Patients in the fastest extended-TUG tertile were predicted to perform 8.3 and 13.4 points better in the SCOPA-Cog and ACE-R assessments, respectively, than the slowest group. Patients who exceeded the dementia cut-off scores with these instruments exhibited significantly longer extended-TUG times. Conclusions: Extended-TUG performance appears to be a useful indicator of cognition as well as motor function and quality of life in PD, and warrants further evaluation as a first line assessment tool to monitor disease severity and response to treatment. Poor extended-TUG performance may identify patients without overt cognitive impairment form whom cognitive assessment is needed

Understanding the performance of water supply systems during mild to extreme droughts

This project assessed the performance of different types of public water supply systems in England and Wales in a range of droughts, including those that are more severe than the worst droughts in the historical record

Student perceptions to teaching undergraduate anatomy in Health Sciences

Anatomy and physiology teaching has undergone significant changes to keep up with advances in technology and to cater for a wide array of student specific learning approaches. This paper examines perceptions towards a variety of teaching instruments, techniques, and innovations used in the delivery and teaching of anatomy and physiology for health science students, and asks whether active learning through more progressive methods of teaching is beneficial for students across health science disciplines. In total, 138 health science students consisting of 32 biomedical science students, 52 exercise and sports science students, and 54 health and physical education students completed the retrospective study. Biomedical science students were least receptive to progressive teaching modalities, preferring anatomical dissections to laboratory workbooks (p ppp\u3c 0.005) when discussing all material in the course. The results obtained demonstrate differences amongst cohorts, which indicate that student perceptions to learning anatomy and physiology are dependent on individual course expectations. Moreover, these results support “hands on” practical teaching, and the use of a variety of teaching tools to foster learning and enjoyment of anatomy and physiology in health sciences

Lack of evidence for decreased protein stability in the 2397 (Met) haplotype of the leucine rich repeat kinase 2 protein implicated in Parkinson’s disease

Missense mutations in the leucine rich repeat kinase 2 (LRRK2) gene are the leading genetic cause of autosomal dominant familial Parkinson’s disease. We previously reported that two mutations within the ROC domain, namely R1441C and A1442P, exhibit increased protein degradation leading to lowered steady state LRRK2 protein levels in HEK293 cells. More recently, the common WD40 domain LRRK2 haplotype, Met2397, which is a risk factor for Crohn’s disease, has been shown to lower steady state protein levels in HEK293 cells. In view of recent evidence implicating LRRK2 and inflame-mation in PD, we investigated the effects of Met2397 on LRRK2 expression, and compared them to the Thr2397 variant and other LRRK2 mutants. In this study, we transfected HEK293 cells with plasmid constructs encoding the different LRRK2 variants, and analyzed the resulting protein levels by Western blot and flow cytometry. Here we found that both the Met2397 and Thr2397 haplotypes yield similar levels of LRRK2 protein expression and do not appear to impact cell viability in HEK293 cells, compared to other LRRK mutants. Thus, we have concluded that the Met2397 haplotype is unlikely to play a role in LRRK2 mediated or idiopathic PD

Mitochondria and neuroprotection in stroke: Cationic arginine-rich peptides (CARPs) as a novel class of mitochondria-targeted neuroprotective therapeutics

Stroke is the second leading cause of death globally and represents a major cause of devastating long-term disability. Despite sustained efforts to develop clinically effective neuroprotective therapies, presently there is no clinically available neuroprotective agent for stroke. As a central mediator of neurodamaging events in stroke, mitochondria are recognised as a critical neuroprotective target, and as such, provide a focus for developing mitochondrial-targeted therapeutics. In recent years, cationic arginine-rich peptides (CARPs) have been identified as a novel class of neuroprotective agent with several demonstrated mechanisms of action, including their ability to target mitochondria and exert positive effects on the organelle. This review provides an overview on neuronal mitochondrial dysfunction in ischaemic stroke pathophysiology and highlights the potential beneficial effects of CARPs on mitochondria in the ischaemic brain following stroke

Proteomic analysis of cortical neuronal cultures treated with poly-arginine peptide-18 (R18) and exposed to glutamic acid excitotoxicity

Poly-arginine peptide-18 (R18) has recently emerged as a highly effective neuroprotective agent in experimental stroke models, and is particularly efficacious in protecting cortical neurons against glutamic acid excitotoxicity. While we have previously demonstrated that R18 can reduce excitotoxicity-induced neuronal calcium influx, other molecular events associated with R18 neuroprotection are yet to investigated. Therefore, in this study we were particularly interested in protein expression changes in R18 treated neurons subjected to excitotoxicity. Proteomic analysis was used to compare protein expression patterns in primary cortical neuronal cultures subjected to: (i) R18-treatment alone (R18); (ii) glutamic acid excitotoxic injury (Glut); (iii) R18-treatment and glutamic acid injury (R18 + Glut); (iv) no treatment (Cont). Whole cell lysates were harvested 24 h post-injury and subjected to quantitative proteomic analysis (iTRAQ), coupled with liquid chromatography-tandem mass spectrometry (LC-MS/ MS) and subsequent bioinformatic analysis of differentially expressed proteins (DEPs). Relative to control cultures, R18, Glut, and R18 + Glut treatment resulted in the detection of 5, 95 and 14 DEPs respectively. Compared to Glut alone, R18 + Glut revealed 98 DEPs, including 73 proteins whose expression was also altered by treatment with Glut and/or R18 alone, as well as 25 other uniquely regulated proteins. R18 treatment reversed the up- or down-regulation of all 73 Glut-associated DEPs, which included proteins involved in mitochondrial integrity, ATP generation, mRNA processing and protein translation. Analysis of protein-protein interactions of the 73 DEPs showed they were primarily associated with mitochondrial respiration, proteasome activity and protein synthesis, transmembrane trafficking, axonal growth and neuronal differentiation, and carbohydrate metabolism. Identified protein pathways associated with proteostasis and energy metabolism, and with pathways involved in neurodegeneration. Collectively, the findings indicate that R18 neuroprotection following excitotoxicity is associated with preservation of neuronal protein profiles, and differential protein expression that assists in maintaining mitochondrial function and energy production, protein homeostasis, and membrane trafficking

A systematic evaluation of current control devices used by people with intellectual disabilities in non-immersive virtual environments

Virtual environments have a role to play in facilitating the acquisition of living skills in people with intellectual disabilities, improving their cognitive skills and providing them with entertainment. However, the currently recommended devices to allow navigation in and interaction with the environments are difficult to use. Using a methodology established in an earlier study, the study aims to systematically document the performance of users with the currently recommended devices in order to (i) inform the design of a usable control device or devices and (ii) act as a baseline against which they can be evaluated. 40 people with severe intellectual disabilities aged 21–67 years used four environments with an equal number of sessions with the different devices being evaluated. Results indicate that when forward movement is provided by the software using the mouse for both navigation and interaction allows better performance both initially and after exposure than using the fire button on the joystick. When the user had to initiate forward movement with the navigation device, the joystick allowed better performance than the arrows on the keyboard. Preventing slippage of the joystick base would make its use much easier and it is suggested that separate devices are retained for navigation and interaction