What is the ACTN3 gene?
Genes are like instructions for each person’s body: they help determine many physical characteristics, such as height, hair and eye colour and athleticism. Most genes come in pairs as each person receives one copy of each gene from their mother and another copy from their father. Genes are made up of a string of chemical code, known as DeoxyriboNucleic Acid (DNA) that cells in the body are able to read in order to perform a particular function, or produce a particular protein. Everyone has two copies of the ACTN3 gene. The ACTN3 gene produces a protein called alpha-actinin-3, which is typically found in skeletal muscle and is involved in the process of muscle contraction. Alpha-actinin-3 is predominantly found in what is known as the fast twitch muscle fibres. Research suggests that the alpha-actinin-3 protein contributes to the ability of these muscle fibres to generate forceful muscle contraction at a high rate of repetition.
Everyone has two copies of the ACTN3 gene, inheriting one copy from each parent. Graphic illustration of Chromosome 11 The ACTN3 gene instructs our body to produce a specific muscle protein called alpha-actinin-3. Researchers have found that some people have the variant which prevents the ACTN3 gene from making this specific muscle protein. Having this variant does not seem to have any harmful health effects, but there does seem to be an effect on sports performance. Scientific studies involving elite level athletes suggest that the presence of this specific muscle protein contributes to the muscle’s ability to generate forceful contractions at high velocity. In fact, one study found that a high number of Olympic sprint athlete tested had neither copy of their ACTN3 gene.
