revista motricidade

ACTN3 R577X polymorphism | 71
extensor strength training in older men (n =
71; 65-81 years) and women (n = 86; 64-73
years). In men no differences in baseline
absolute was observed between ACTN3
genotype groups but in women, the XX
genotype group had an absolute peak power
that was higher than the RR (p = .005).
Recently, Fiuza-Luces et al. (2011)
compared the ACTN3 genotype frequencies
between different groups of ethnicallymatched:
centenarians (57 female; 100-108
years), young healthy controls (67 females,
216 males; 21 years), and humans with
different phenotypes (50 male professional
road cyclists and 63 male jumpers/sprinters).
Although there were no differences in
genotype, significantly frequency of the XX
genotype (p = .011) were found in
centenarians compared with power athletes
(XX = 15.9%). Thus, alpha-actinin-3
deficiency suggests a certain association to
endurance muscle phenotype and muscular
weakness. Thus, it is necessary to develop
more studies in the elderly population in order
to analyze the variation of ACTN3 in muscle
performance ACTN3.
CONCLUSIONS
The ACTN3 R577X polymorphism results
in a well-defined phenotype and has a
biologically plausible effect on skeletal muscle
performance in athletes and in the general
population; that is, loss of α-actinin-3 from
fast-twitch muscle fibers is detrimental to
sprint and power activities. Whether or not α-
actinin-3 deficiency influences adaptations for
endurance performance is less clear; there may
be more subtle effects that remain to be
explored such as the effect on response to
exercise and training. Future studies of the
advantages and disadvantages that the ACTN3
X-allele has to be developed.
REFERENCES
Ahmetov, I. I., & Rogozkin, V. A. (2009). Genes,
athlete status and training - An overview.
Medicine and Sport Science, 54, 43-71.
Ahmetov, I. I., Druzhevskaya, A. M., Astratenkova,
I. V., Popov, D. V., Vinogradova, O. L., &
Rogozkin, V. A. (2010). The ACTN3 R577X
polymorphism in Russian endurance athletes.
British Journal of Sports Medicine, 44(9), 649-652.
Berman, Y., & North, K. N. (2010). A gene for
speed: The emerging role of alpha-actinin-3 in
muscle metabolism. Physiology, 25(4), 250-259.
Blanchard, A., Ohanian, V., & Critchley, D. (1989).
The structure and function of alpha-actinin.
Journal of Muscle Research and Cell Motility, 10(4),
280-289.
Bray, M. S., Hagberg, J. M., Perusse, L., Rankinen,
T., Roth, S. M., Wolfarth, B., … Bouchard, C.
(2009). The human gene map for performance
and health-related fitness phenotypes: The
2006-2007 update. Medicine & Science in Sports &
Exercise, 41(1), 35-73.
Clarkson, P. M., Devaney, J. M., Gordish-Dressman,
H., Thompson, P. D., Hubal, M. J., Urso, M., …
Hoffman, E. P. (2005). ACTN3 genotype is
associated with increases in muscle strength in
response to resistance training in women.
Journal of Applied Physiology, 99, 154-163.
Coffey, V. G., & Hawley, J. A. (2007). The molecular
bases of training adaptation. Sports Medicine,
37(9), 737-763.
Delmonico, M., Kostek, M., Doldo, N., Hand, B.,
Walsh, S., Conway, J., … Hurley, B. (2007).
Alpha-actinin-3 (ACTN3) R577X polymorphism
influences knee extensor peak power
response to strength training in older men and
women. Journals of Gerontology Series A: Biological
Sciences and Medical Sciences, 62(2), 206-212.
Druzhevskaya, A. M., Ahmetov, I. I., Astratenkova,
I. V., & Rogozkin, V. A. (2008). Association of
the ACTN3 R577X polymorphism with power
athlete status in Russians. European Journal of
Applied Physiology, 103(6), 631-634.
Eynon, N., Duarte, J. A., Oliveira, J., Sagiv, M.,
Yamin, C., Meckel, Y., … Goldhammer, E.
(2009). ACTN3 R577X polymorphism and
Israeli top-level athletes. International Journal of
Sports Medicine, 30(9), 695-698.
Fiuza-Luces, C., Ruiz, J. R., Rodriguez-Romo, G.,
Santiago, C., Gomez-Gallego, F., Yvert, T., …
Lucia, A. (2011). Are 'endurance' alleles
'survival' alleles Insights from the ACTN3
R577X polymorphism. PLoS One, 6(3), e17558.
Gomez-Gallego, F., Santiago, C., Gonzalez-Freire,
M., Muniesa, C., Del Valle, M. F., Perez, M., …
Lucia, A. (2009). Endurance performance: