ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men

Abstract

The progressive decline in strength and power with ageing leads to compromised mobility and an increased risk of falls. Angiotensin converting enzyme (ACE) I/D and alpha actinin 3 (ACTN3) R/X polymorphisms have been suggested to influence variations in skeletal muscle function and body composition. This study investigated the associations between these polymorphisms and knee extensor muscle function and muscularity in older Caucasian men. Strength was measured isometrically and isokinetically (at 30 and 240 degrees s(-1)), and the time course of the evoked twitch response recorded. A dual-energy X-ray absorptiometry scan measured thigh and whole body non-skeletal lean mass. ACE I/D and ACTN3 R/X polymorphisms were determined by polymerase chain reaction, and serum ACE activity using spectrophotometry. Whole body and thigh non-skeletal lean mass were independent of ACE and ACTN3 genotypes. Absolute and relative high velocity strength, and the time course of an evoked twitch were not associated with ACE or ACTN3 genotype. Serum ACE activity was negatively correlated with relative high velocity torque (R = -0.23, P = 0.03), and exhibited a positive trend with knee extensor isometric strength (R = 0.19, P = 0.07). ACE I/D and ACTN3 R/X polymorphisms were not associated with muscle function or muscularity phenotypes in older Caucasian men, although serum ACE activity appeared to have a small effect on muscle function.

Genes and the ageing muscle: a review on genetic association studies

“…Delmonico et al found no association of the ACTN3 R577X polymorphism with muscle strength (knee extensor) and physical performance (short physical performance battery score, and 400-m walk time) in a large cohort of old men and women . McCauley et al reported no association between this polymorphism and knee extension muscle strength or indices of muscularity (whole body or thigh nonskeletal lean mass) in old Caucasian men (McCauley et al 2010). Recently, we observed no major influence of ACTN3 genotypes on muscle phenotypes (leg and grip strength, walking and stair climbing ability) in nonagenarians (mostly women) (Bustamante-Ara et al 2010).…”

“…Delmonico et al found no association between the ACTN3 R577X polymorphism and mid-thigh CSA in older men and women . McCauley et al found no association with indices of muscularity (whole body or thigh non-skeletal lean mass) in older Caucasian men (McCauley et al 2010). In contrast, in the aforementioned study by Lima et al women who were X allele carriers presented higher relative FFM at baseline compared with RR women (Lima et al 2011).…”

“…Some studies reported a positive association between the D allele and the following phenotypes: muscle mass in healthy inactive old men and women (Charbonneau et al 2008), lean mass (as well as handgrip force) in advanced cancer patients (Vigano et al 2009) or appendicular fat free fat (FFM) in old women (Lima et al 2011). In contrast, McCauley et al found no association with whole body and thigh lean mass in old Caucasians (McCauley et al 2010).…”

Does the ACE I/D polymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults?

“…Thus, with the present design for phenotype assessment, the hypothesis that ACE I/D and ACTN3 R557X genotypes might exert a combined influence on leg muscle phenotypes was not corroborated. Though controversy exists (McCauley et al 2009(McCauley et al , 2010Moran et al 2006), the ACE D allele has been associated with power-related phenotypes in non-athletic populations (Giaccaglia et al 2008;Hopkinson et al 2004;Yamin et al 2007); this allele has also been associated with elite "sprint" athletic performance (Myerson et al 1999;Woods et al 2001), though more recent data do not corroborate such association Scott et al 2005Scott et al , 2010. However, the association between leg 'explosive' muscle power and the ACE I/D polymorphism had not been studied to date.…”

“…isokinetic tests involving single-joint movements (e.g. knee-extension) at relatively low angular velocities (<240° s _1 ) (McCauley et al 2009(McCauley et al , 2010. Indeed, during actual, natural high muscle power actions (e.g.…”