Human gene SMART study

Note that positions for participants have now been filled. The study is ongoing and results are being analysed.

About the Gene SMART project

Victoria University has received funding from the Australian Research Council to conduct the Gene SMART (Skeletal Muscle Adaptive Response to Training) Study.

The Gene SMART Study, led by Dr Nir Eynon and Professor David Bishop, aims to identify genes that are responsible to different muscle adaptions to similar exercise training.

One of the genes the influence SMART is the human speed gene, (α-actinin-3 or ACTN3) encodes for a protein of skeletal muscle fibres.

About 20% of the world population have a common variation in this gene and consequently completely lack this protein, which influences their muscle function and exercise performance.

Media appearances

Researchers have appeared in the following programs talking about the research study:

Benefits of participating in this study

We are looking for 18 to 45 year old men to participate in a 4 week high intensity exercise program to to see their Skeletal Muscle Adaptive Response to Training (SMART).

As a research participant you will:

  • be offered a cash reimbursement of $200 for your time
  • train in state-of-the-art facilities at our Footscray Park Campus supervised by qualified sport scientists with years of experience
  • be provided with feedback on your performance in various tests, and gain a greater understanding of your own fitness. potentially gaining significant improvements to your own fitness
  • be provided with a nutritional package: including an individual consult, basic body measurement data, a breakdown of optimal nutritional intake based on current NH&MRC guidelines, a 48 hour controlled diet and access to nutritious food and snacks during all trial periods.

From your participation in this project you will gain experience and knowledge on how this type of study is undertaken, which might be beneficial for your own understanding of the human body.

What participants are required to do

In total you will be asked to give between 20 and 30 hours of your time over 8 weeks which involves the following phases:

  • preliminary
  • familiarisation
  • baseline testing
  • training
  • post training.

Preliminary period

Step 1 [Duration 30 minutes]

You will:

  • fill out an informed consent form and exclusion criteria questionnaires
  • provide small blood sample from your fingertip to determine your genes.

Step 2 [Duration one week]

Your activity will be monitored for one week using small activity monitor attached to your thigh.

Testing period

This phase takes place over two days.

Step 3 [Duration 60-90 minutes]

You will participate in several testing session for the 20 km cycle Time Trial (TT) test.

Step 4 [Duration 60-90 minutes]

You will participate in several testing session for the graded-exercise test (GXT) and maximal oxygen uptake test (VO2max).

Training period

Training will be three times per week over four weeks\\, at your convenience time of the day.

Step 5 [Duration five hours]

  1. Muscle biopsy at rest and blood sample
  2. Exercise session
  3. Biopsy and blood sample
  4. 3 hours rest at Victoria University
  5. Biopsy and blood sample.

Step 6 [four weeks, three times per week, each exercise session is one hour]

This phase involves 11 exercise sessions.

Final period

This phase takes place over two days.

Step 7 [Duration 30 minutes]

Muscle biopsy at rest and blood sample.

Step 8 [Duration 60-90 minutes]

You will participate in post-training testing sessions for the graded-exercise test (GXT), maximal oxygen uptake test (VO2max), and 20 km cycle Time Trial (TT) test.

Explanation of the tests & training sessions in this study

There are a variety of tests and training sessions used in this study.

GXT and a VO2max

GXT and a VO2max tests involve cycling on a stationary cycle ergometer (Velotron, RacerMate, Seattle, WA, USA).

Following a warm-up, you will cycle for four-minute stages of progressively increasing intensity, with 30 second rest periods.

The total time required to complete this test will be no longer than one hour.

This test will be used to set the intensity at which you will be training. Five minutes after the end of the GXT, you will perform a VO2max on the same cycle ergometer.

For this test you will cycle continuously at intensity slightly greater than that at which you stopped during the graded-exercise test. The test ends when you can no longer keep up the required pace, and will take no longer than five minutes to complete.

Throughout this test you will wear a mouth piece which we will use to analyse the air you breathe out. This will allow us to determine your maximal oxygen uptake, essentially a measure of your aerobic fitness.

20 km cycle time trial (TT)

The 20 km cycle TT starts with a warm-up consisting of 5 minutes of cycling at 50 W at a self-determined power output.

Following 2 minutes of rest, you will be required to complete the 20 km cycle TT in the quickest possible time.

During the time trial, power output measures and time will be concealed from you. However, you will be permitted to monitor your progress through completed distance and will be provided with verbal encouragement during the test.

Training session

A training session is completed on an electronically-braked cycle ergometer (Velotron, Racer Mate Inc, Seattle, USA) preceded by a 5-min warm up at 50 W.

Each session will consist of eight to fourteen minute intervals performed at different intensities ranging interspersed with 1 minute recovery periods at a power <30 W (work-to-rest ratio of 2:1).

Each session will consist of three to seven 4 minute intervals performed at different intensities ranging from 140% to 170% of their individually determined pre-training power at the LT, and interspersed with 2 minute recovery periods at a power <30 W (work-to-rest ratio of 2:1).

In order to maintain progression, the workload will be altered by virtue of manipulation of the number of intervals per session and intensity (resistance).

Muscle biopsies

The purpose of a muscle biopsy is to examine the muscle in detail using a number of techniques we have available.

A qualified and experienced doctor will perform each muscle biopsy. The technique involves first cleaning the skin above the part of your thigh where the biopsy is taken.

A local anaesthetic is injected into the skin where the biopsy will be taken. This will cause a slight stinging sensation. Once the numbness has set in a small incision is made with a scalpel, and the biopsy needle is inserted about two to five centimetres into your thigh muscle, and a small amount of muscle is taken out (maximum of 0.6 gram).

The biopsy takes about five to ten seconds and you will feel some pressure in your leg and possibly some pain during the procedure. Pressure is then applied to the muscle to ensure there is minimal swelling.

Contact the project team

Dr Nir Eynon
Phone: +61 3 9919 5615

Professor David Bishop
Phone: +61 3 9919 9471

Dr Xu Yan
Phone: +61 3 9919 4024

Lannie Okeefe, PhD Candidate, Sport Dietitian

Ioannis Papadimitriou, PhD Candidate