Exploring the affects on athletic performance of ACTN3
Introduction-
Define Trait
Athletic performance is a trait that generally
affects an individuals skeletal muscles to
enhance endurance or sprinting ability.
Genetic affects
Athletic performance is a polygenic trait
because there are several genes that can
have an observed affect on phenotype.
Function
ACTN3 is a gene that produces a protein α-
actinin-3. This protein is primarily found in
fast twitch muscles. for individuals who
have the ACTN3 gene typically have a higher
ratio of fast twitch muscles to slow twitch
muscles making them better sprint/power
athletes and worse endurance athletes.
Inheritance Pattern
ACTN3 is an autosomal dominant trait.
When individuals had the RR or RX
genotypes they were more likely to be
power athletes, and in individuals with the
XX genotype they were more likely to be a
endurance athlete or in the control group.
This shows a dominant inheritance pattern
because individuals with the heterozygous
alleles express the trait.
Experimental Genetics
Result
This study was an associational study. This
study focuses on the athletic performance
of individuals with the ACTN3 genes. The
experiment tested the frequency of 577R or
R577X genotypes in individuals who were
endurance vs sprinting athletes. The result
showed that if an athlete has the 577R or
R577X genes the athlete was more likely to
be a sprinting athlete.  Show data
Show data
“ Both male and female elite sprint athletes
had significantly higher frequencies of the
577R allele than did controls. This suggested
that the presence of alpha-actinin-3 has a
beneficial effect on the function of skeletal
muscle in generating forceful contractions
at high velocity, and provides an
evolutionary advantage because of
increased sprint performance.”
Conclusion
The presence of alpha-actin-3 in the skeletal
muscles is favorable for sprinters which
means athletes with the 577R and R577X
alleles are more likely to become sprinters
and individuals with 577X alleles are more
likely to be endurance athletes. Having this
gene makes the individual likely to become
a sprinter and unlikely to become an
endurance runner
Gene Expression-
Result
The gene has RNA expression in the
muscles, blood, bone marrow & lymphoid
tissues, and proximal digestive tract. The
gene is mostly expressed in the muscles and
low expression in the other categories. In
the muscles the gene is expressed primarily
in the skeletal muscles.
Conclusion
Since the gene is primarily expressed in
skeletal muscles, ACTN3 would have an
affect how the muscles move and could
either help or hurt athletic performance.
Because we know that the presence of the
ACTN3 gene makes good sprint/power
athletes, the gene expression in the skeletal
muscles is helping with athletic
performance.
Future Directions-
Question 1: Does ACTN3 make it easier to
grow muscle or does it improve overall
strength?
An associational study that tested muscular
strength in normal individuals who do not
poses the gene and in non athlete individual
who poses the gene could give an
understanding as to whether this gene
makes your muscles stronger or just better
and growing.
Question 2: What affects does ACTN3 have
on the blood and bone marrow?
This gene is expressed a little in the blood
and bone marrow so a functional study
where lab mice are altered to have higher
ACTN3 expression in the blood and bone
marrow could help study ACTN3’s affect in
the blood and bone marrow.
Works cited
Eynon, Nir, and Erik D. Hanson . Genes for Elite
Power and Sprint Performance: ACTN3 Leads the Way.
Springer International Publishing Switzerland 2013, 17
May 2013.
McKusick , Victor A. “ACTININ, ALPHA-3;
ACTN3.” Online Mendelian Inheritance in Man, 8 Aug.
2018, omim.org/entry/102574?
search=ACTN3&highlight=actn3#16.
“Tissue Expression of ACTN3.” Tissue Expression of
ACTN3 - Summary - The Human Protein Atlas, Human
Protein Atlas, www.proteinatlas.org/ENSG00000248746-
ACTN3/tissue.