The gene SMART study: method, study design, and preliminary findings

Abstract

The gene SMART (genes and the Skeletal Muscle Adaptive Response to Training) Study aims to identify genetic variants that predict the response to both a single session of High-Intensity Interval Exercise (HIIE) and to four weeks of High-Intensity Interval Training (HIIT). While the training and testing centre is located at Victoria University, Melbourne, three other centres have been launched at Bond University, Queensland University of Technology, Australia, and the University of Brighton, UK. Currently 39 participants have already completed the study and the overall aim is to recruit 200 moderately-trained, healthy Caucasians participants (all males 18–45 y, BMI < 30). Participants will undergo exercise testing and exercise training by an identical exercise program. Dietary habits will be assessed by questionnaire and dietitian consultation. Activity history is assessed by questionnaire and current activity level is assessed by an activity monitor. Skeletal muscle biopsies and blood samples will be collected before, immediately after and 3 h post HIIE, with the fourth resting biopsy and blood sample taken after four weeks of supervised HIIT (3 training sessions per week). Each session consists of eight to fourteen 2-min intervals performed at the pre-training lactate threshold (LT) power plus 40 to 70% of the difference between pre-training lactate threshold (LT) and peak aerobic power (Wpeak). A number of muscle and blood analyses will be performed, including (but not limited to) genotyping, mitochondrial respiration, transcriptomics, protein expression analyses, and enzyme activity. The participants serve as their own controls. Even though the gene SMART study is tightly controlled, our preliminary findings still indicate considerable individual variability in both performance (in-vivo) and muscle (in-situ) adaptations to similar training. More participants are required to allow us to better investigate potential underlying genetic and molecular mechanisms responsible for this individual variability.

Mitochondrial respiration variability and simulations in human skeletal muscle: The Gene SMART study

“…Participants were from the Genes and Skeletal Muscle Adaptive Response to Training (Gene SMART) cohort. The full study methodology has been previously described elsewhere . 68 apparently healthy, Caucasian men (age = 31.4 ± 8.2 years old; BMI = 25.2 ± 3.2 kg/m 2 ) participated in the study and signed a written informed consent.…”

“…The full study methodology has been previously described elsewhere. 27 68 apparently healthy, Caucasian men (age = 31.4 ± 8.2 years old; BMI = 25.2 ± 3.2 kg/m 2 ) participated in the study and signed a written informed consent. Participants were excluded if they had any preexisting heart condition, health issues, and/or preexisting injury that could potentially impair exercise capacity.…”

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

“…Cross‐sectional studies and mechanistic investigations into the response to these questions are currently limited. The recently established Gene SMART (Skeletal Muscle Response to Training) study, which is part of the international Athlome consortium (Pitsiladis et al., ), is an example of tightly controlled exercise training study collecting a variety of physical phenotypes as well as muscle biopsies and blood from healthy moderately trained individuals (Yan et al., ). These studies have the potential to elucidate the influence of ACTN3 R577X on human muscle function in a well‐defined and tightly controlled experimental setting, which has yet to be achieved.…”

Identification of novel mitochondrial and mitochondrial related genetic loci associated with exercise response in the Gene SMART study

“…At the time of analysis, 77 participants had taken part in the study, 62 of whom successfully completed 4 weeks of High-Intensity Interval Training (HIIT) intervention protocol in the Gene SMART (Skeletal Muscle Adaptive Response to Training) study (37) at Victoria University, Australia. Ethical clearance for this study was provided by the Human Research Ethics Committee at Victoria University (Approval Number: HRE13-233), and the clearance was transferred to and also provided by the QUT Human Research Ethics Committee (Approval Number: 1600000342).…”