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The skeletal muscle consists of two types of fibers - fast twitch and slow twitch. The slow twitch fibers work efficiently for a long period of time while the fast twitch fibers are responsible for the short and sudden burst of power necessary for sprinting or weightlifting. The ACTN3 gene is associated with the synthesis of alpha actinin 3 protein present in the fast twitch fibers (Type II) of skeletal muscle. The alpha actinin 3 protein is found almost exclusively in the fast twitch fibers.
Specific alleles of this gene are known to either increase or decrease the extent of muscle power based on the synthesis of the alpha actinin 3 protein. People with the C variant of the gene are associated with higher muscle power due to the presence of active alpha actinin 3 protein while people with the T variant of the gene are associated with lower muscle power due to the presence of inactive alpha actinin 3 protein. As a result, sprint or power athletes tend to have at least one copy of the C allele. Both the C and the T allele carriers have selective advantages in different environmental conditions.

ACTN3 Gene in various chip versions

CHIP VersionACTN3 SNPs
23andMe (Use your 23andme raw data to know your ACTN3 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your ACTN3 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your ACTN3 Variant)
OmniExpress microarray chipPresent
GenotypePhenotype
TT[Limitation] Absence of active form of alpha actinin 3 protein [Limitation] More likely to have lower muscle power [Advantage] Better suited for endurance based activities
CT[Advantage] Presence of active form of alpha actinin 3 protein [Advantage] More likely to have moderate muscle power [Advantage] Better suited for sprinting
CC[Advantage] Presence of active form of alpha actinin 3 protein [Advantage] More likely to have higher muscle power [Advantage] Better suited for sprinting and power activities
For people with C variant (High Muscle Power) Greater power due to the presence of the active alpha actinin 3 protein allows you to perform a variety of power based activities like sprinting and weightlifting High-intensity workout will yield better results Most elite sprinters and power athletes have at least one copy of this gene
For people with T variant (Low Muscle Power) Lower muscle power due to absence of the active alpha actinin 3 protein Slow and efficient muscle performance will aid in endurance activities like long distance running, playing tennis, basketball and dancing. Low to mid intensity workouts for longer durations will yield better results

References:

  1. Nan Yang, Daniel G. MacArthur, Jason P. Gulbin, Allan G. Hahn, Alan H. Beggs, Simon Easteal,and Kathryn North; “ACTN3 Genotype Is Associated with Human Elite Athletic Performance”; Am J Hum Genet. 2003
  2. Seok-Ki Min, Seung-Taek Lim, and Chang-Sun Kim; “Association of ACTN3 polymorphisms with BMD, and physical fitness of elderly women”; J Phys Ther Sci. 2016 Oct
  3. http://kohlmanngen677s13.weebly.com/
  4. http://playdna.co.uk/images/Sports%20Brochure%20example%20pages.pdf
  5. https://www.dnafit.com/blog/gene_in_focus_-_part_3:_actn3_3307.asp
Find out which variation of the gene you carry and more at www.xcode.life

Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.

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