Skip to main content
Erschienen in: European Journal of Applied Physiology 2/2010

01.05.2010 | Original Article

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

verfasst von: Tracey McCauley, Sarabjit S. Mastana, Jonathan P. Folland

Erschienen in: European Journal of Applied Physiology | Ausgabe 2/2010

Einloggen, um Zugang zu erhalten

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° 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.
Literatur
Zurück zum Zitat Akhmetov II, Astratenkova IV, Druzhevskaia AM, Komkova AI, Liubaeva EV, Tarakin PP, Shenkman BS, Rogozkin VA (2006) The association of gene polymorphisms with the muscle fibre type composition. Rossiĭskii fiziologicheskiĭ zhurnal imeni I.M. Sechenova/Rossiĭskaia akademiia nauk 92:883–888PubMed Akhmetov II, Astratenkova IV, Druzhevskaia AM, Komkova AI, Liubaeva EV, Tarakin PP, Shenkman BS, Rogozkin VA (2006) The association of gene polymorphisms with the muscle fibre type composition. Rossiĭskii fiziologicheskiĭ zhurnal imeni I.M. Sechenova/Rossiĭskaia akademiia nauk 92:883–888PubMed
Zurück zum Zitat Carmelli D, Kelly-Hayes M, Wolf PA, Swan GE, Jack LM, Reed T, Guralnik JM (2000) The contribution of genetic influences to measures of lower extremity function in older male twins. J Gerontol Ser A Biol Sci 55(1):49–53 Carmelli D, Kelly-Hayes M, Wolf PA, Swan GE, Jack LM, Reed T, Guralnik JM (2000) The contribution of genetic influences to measures of lower extremity function in older male twins. J Gerontol Ser A Biol Sci 55(1):49–53
Zurück zum Zitat Chan S, Seto JT, MacArthur DG, Yang N, North KM, Head SI (2008) A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. Am J Physiol Cell Physiol 295(4):C897–C904CrossRefPubMed Chan S, Seto JT, MacArthur DG, Yang N, North KM, Head SI (2008) A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. Am J Physiol Cell Physiol 295(4):C897–C904CrossRefPubMed
Zurück zum Zitat Charbonneau DE, Hanson ED, Ludlow AT, Delmonico MJ, Hurley BF, Roth SM (2008) ACE genotype and the muscle hypertrophic and strength responses to strength training. Med Sci Sports Exerc 40(4):677–683CrossRefPubMed Charbonneau DE, Hanson ED, Ludlow AT, Delmonico MJ, Hurley BF, Roth SM (2008) ACE genotype and the muscle hypertrophic and strength responses to strength training. Med Sci Sports Exerc 40(4):677–683CrossRefPubMed
Zurück zum Zitat Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP (2005) ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol 99:154–163CrossRefPubMed Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP (2005) ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol 99:154–163CrossRefPubMed
Zurück zum Zitat Delmonico MJ, Zmuda JM, Taylor BC, Cauley JA, Harris TB, Manini TM, Schwartz A, Li R, Roth SM, Hurley BF, Bauer DC, Ferrell RE, Newman AB, Health ABC and MrOS Research Groups (2008) Association of the ACTN3 genotype and physical functioning with age in older adults. J Gerontol Ser A Biol Sci Med Sci 63(11):1227–1234 Delmonico MJ, Zmuda JM, Taylor BC, Cauley JA, Harris TB, Manini TM, Schwartz A, Li R, Roth SM, Hurley BF, Bauer DC, Ferrell RE, Newman AB, Health ABC and MrOS Research Groups (2008) Association of the ACTN3 genotype and physical functioning with age in older adults. J Gerontol Ser A Biol Sci Med Sci 63(11):1227–1234
Zurück zum Zitat Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA (2008) Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol 103(6):631–634CrossRefPubMed Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA (2008) Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol 103(6):631–634CrossRefPubMed
Zurück zum Zitat Edwards RHT, Young A, Hosking GP, Jones DA (1977) Human skeletal muscle function: description of tests and normal values. Clin Sci Mol Med 52:283–290PubMed Edwards RHT, Young A, Hosking GP, Jones DA (1977) Human skeletal muscle function: description of tests and normal values. Clin Sci Mol Med 52:283–290PubMed
Zurück zum Zitat Folland JP, Williams AG (2007) The adaptations to strength training. Morphological and neurological contributions to increased strength. Sports Med 37(2):145–168CrossRefPubMed Folland JP, Williams AG (2007) The adaptations to strength training. Morphological and neurological contributions to increased strength. Sports Med 37(2):145–168CrossRefPubMed
Zurück zum Zitat Folland JP, Leach B, Little T, Hawker K, Myerson S, Montgomery H, Jones DA (2000) Angiotensin-converting enzyme genotype affects the response of human skeletal muscle to functional overload. Exp Physiol 85:575–579CrossRefPubMed Folland JP, Leach B, Little T, Hawker K, Myerson S, Montgomery H, Jones DA (2000) Angiotensin-converting enzyme genotype affects the response of human skeletal muscle to functional overload. Exp Physiol 85:575–579CrossRefPubMed
Zurück zum Zitat Frederiksen H, Bathum L, Worm C, Chistensen K (2003) ACE genotype and physical training effects: a randomized study among elderly Danes. Aging Clin Exp Res 15:284–291PubMed Frederiksen H, Bathum L, Worm C, Chistensen K (2003) ACE genotype and physical training effects: a randomized study among elderly Danes. Aging Clin Exp Res 15:284–291PubMed
Zurück zum Zitat Gordon SE, Davis BS, Carlson CJ, Booth FW (2001) ANG II is required for optimal overload-induced skeletal muscle hypertrophy. Am J Physiol Endocrinol Metab 280:150–159 Gordon SE, Davis BS, Carlson CJ, Booth FW (2001) ANG II is required for optimal overload-induced skeletal muscle hypertrophy. Am J Physiol Endocrinol Metab 280:150–159
Zurück zum Zitat Gür H, Gransberg L, vanDyke D, Knutsson E, Larsson L (2003) Relationship between in vivo muscle force at different speeds of isokinetic movements and myosin isoform expression in men and women. Eur J Appl Physiol 88:487–496CrossRefPubMed Gür H, Gransberg L, vanDyke D, Knutsson E, Larsson L (2003) Relationship between in vivo muscle force at different speeds of isokinetic movements and myosin isoform expression in men and women. Eur J Appl Physiol 88:487–496CrossRefPubMed
Zurück zum Zitat Hopkinson NS, Nickol AH, Payne J, Hawe E, Man W, Moxham J, Montgomery H, Polkey MI (2004) ACE gene and strength in COPD. Am J Respir Crit Care Med 170:395–399CrossRefPubMed Hopkinson NS, Nickol AH, Payne J, Hawe E, Man W, Moxham J, Montgomery H, Polkey MI (2004) ACE gene and strength in COPD. Am J Respir Crit Care Med 170:395–399CrossRefPubMed
Zurück zum Zitat Ishigai Y, Mori T, Ikeda T, Fukuzawa A, Shibano T (1997) Role of bradykinin-NO pathway in prevention of cardiac hypertrophy by ACE inhibitor in rat cardiomyocytes. Am J Physiol 273:H2659–H2663PubMed Ishigai Y, Mori T, Ikeda T, Fukuzawa A, Shibano T (1997) Role of bradykinin-NO pathway in prevention of cardiac hypertrophy by ACE inhibitor in rat cardiomyocytes. Am J Physiol 273:H2659–H2663PubMed
Zurück zum Zitat Izquierdo M, Ibanez J, Gorastiag E, Garrues M, Zuniga A, Anton A, Larrion JL, Hakkinen K (1999) Maximal strength and power characteristics in isometric and dynamic actions of the upper and lower extremities in middle-aged and older men. Acta Physiol Scand 167(1):57–68CrossRefPubMed Izquierdo M, Ibanez J, Gorastiag E, Garrues M, Zuniga A, Anton A, Larrion JL, Hakkinen K (1999) Maximal strength and power characteristics in isometric and dynamic actions of the upper and lower extremities in middle-aged and older men. Acta Physiol Scand 167(1):57–68CrossRefPubMed
Zurück zum Zitat Lexell J (1995) Human aging, muscle mass, and fiber type composition. J Gerontol Ser A Biol Sci Med Sci 50, spec no. 11–16 Lexell J (1995) Human aging, muscle mass, and fiber type composition. J Gerontol Ser A Biol Sci Med Sci 50, spec no. 11–16
Zurück zum Zitat MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN (2008) An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 15:1076–1086CrossRef MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN (2008) An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 15:1076–1086CrossRef
Zurück zum Zitat Mc Cauley TM, Mastana SS, Hossack J, MacDonald M, Folland JP (2009) Human angiotensin-converting enzyme I/D and α-actinin3 R577X genotypes and muscle functional and contractile properties. Exp Physiol 94(1):81–89CrossRef Mc Cauley TM, Mastana SS, Hossack J, MacDonald M, Folland JP (2009) Human angiotensin-converting enzyme I/D and α-actinin3 R577X genotypes and muscle functional and contractile properties. Exp Physiol 94(1):81–89CrossRef
Zurück zum Zitat Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K (2001) Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet 10:1335–1346CrossRefPubMed Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K (2001) Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet 10:1335–1346CrossRefPubMed
Zurück zum Zitat Myerson SG, Hemingway H, Budget R, Martin J, Humphries S, Montogmery H (1999) Human angiotensin I-converting enzyme gene and endurance performance. J Appl Physiol 87(4):1313–1316PubMed Myerson SG, Hemingway H, Budget R, Martin J, Humphries S, Montogmery H (1999) Human angiotensin I-converting enzyme gene and endurance performance. J Appl Physiol 87(4):1313–1316PubMed
Zurück zum Zitat Niemi A, Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 13:965–969CrossRefPubMed Niemi A, Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 13:965–969CrossRefPubMed
Zurück zum Zitat Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA (2009) Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol 106(3):959–965CrossRefPubMed Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA (2009) Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol 106(3):959–965CrossRefPubMed
Zurück zum Zitat Parker DF, Round JM, Sacco P, Jones DA (1990) A cross sectional survey of upper and lower limb strength in boys and girls during childhood and adolescence. Ann Hum Biol 17:199–221CrossRefPubMed Parker DF, Round JM, Sacco P, Jones DA (1990) A cross sectional survey of upper and lower limb strength in boys and girls during childhood and adolescence. Ann Hum Biol 17:199–221CrossRefPubMed
Zurück zum Zitat Pescatello LS, Kostek MA, Gordish-Dressman H, Thompson PD, Seip RL, Price TB, Angelopoulos TJ, Clarkson PM, Gordon PM, Moyna NM, Visich PS, Zoeller RF, Devaney JM, Hoffman EP (2006) ACE ID genotype and muscle strength and size response to unilateral resistance training. Med Sci Sports Exerc 38:1074–1081CrossRefPubMed Pescatello LS, Kostek MA, Gordish-Dressman H, Thompson PD, Seip RL, Price TB, Angelopoulos TJ, Clarkson PM, Gordon PM, Moyna NM, Visich PS, Zoeller RF, Devaney JM, Hoffman EP (2006) ACE ID genotype and muscle strength and size response to unilateral resistance training. Med Sci Sports Exerc 38:1074–1081CrossRefPubMed
Zurück zum Zitat Roos MR, Rice CL, Connelly DM, Vandervoort AA (1999) Quadriceps muscle strength, contractile properties, and motor unit firing rates in young and old men. Muscle Nerve 22:1094–1103CrossRefPubMed Roos MR, Rice CL, Connelly DM, Vandervoort AA (1999) Quadriceps muscle strength, contractile properties, and motor unit firing rates in young and old men. Muscle Nerve 22:1094–1103CrossRefPubMed
Zurück zum Zitat Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF (2008) The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 16(3):391–394CrossRefPubMed Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF (2008) The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 16(3):391–394CrossRefPubMed
Zurück zum Zitat Skelton DA, Greig CA, Davies JM, Young A (1994) Strength, power and related functional ability of healthy people aged 65–89 years. Age Ageing 23(5):371–377CrossRefPubMed Skelton DA, Greig CA, Davies JM, Young A (1994) Strength, power and related functional ability of healthy people aged 65–89 years. Age Ageing 23(5):371–377CrossRefPubMed
Zurück zum Zitat Tiainen K, Pajala S, Spila S, Kaprio J, Koskenvuo M, Alen M, Heikkinen E, Tolvanen A, Rantanen T (2007) Genetic effects in common on maximal walking speed and muscle performance in older women. Scand J Med Sci Sports 17:274–280PubMed Tiainen K, Pajala S, Spila S, Kaprio J, Koskenvuo M, Alen M, Heikkinen E, Tolvanen A, Rantanen T (2007) Genetic effects in common on maximal walking speed and muscle performance in older women. Scand J Med Sci Sports 17:274–280PubMed
Zurück zum Zitat Vincent B, DeBock K, Ramaekers M, Van Den Eede E, Van Leemputte M, Hespel P, Thomis M (2007) The ACTN3 (R577X) genotype is associated with fibre type distribution. Physiol Genom 32:58–63CrossRef Vincent B, DeBock K, Ramaekers M, Van Den Eede E, Van Leemputte M, Hespel P, Thomis M (2007) The ACTN3 (R577X) genotype is associated with fibre type distribution. Physiol Genom 32:58–63CrossRef
Zurück zum Zitat Walsh S, Liu D, Metter EJ, Ferrucci L, Roth SM (2008) ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J Appl Physiol 105(5):1486–1491CrossRefPubMed Walsh S, Liu D, Metter EJ, Ferrucci L, Roth SM (2008) ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J Appl Physiol 105(5):1486–1491CrossRefPubMed
Zurück zum Zitat Westerkamp CM, Gordon SE (2005) Angiotensin-converting enzyme inhibition attenuates myonuclear addition in overloaded slow-twitch skeletal muscle. Am J Physiol Regul Integr Comp Physiol 289(4):R1223–R1231PubMed Westerkamp CM, Gordon SE (2005) Angiotensin-converting enzyme inhibition attenuates myonuclear addition in overloaded slow-twitch skeletal muscle. Am J Physiol Regul Integr Comp Physiol 289(4):R1223–R1231PubMed
Zurück zum Zitat Williams AG, Folland JP (2008) Similarity of polygenic profiles limits the potential for elite human physical performance. J Physiol 586(1):113–1231CrossRefPubMed Williams AG, Folland JP (2008) Similarity of polygenic profiles limits the potential for elite human physical performance. J Physiol 586(1):113–1231CrossRefPubMed
Zurück zum Zitat Williams AG, Day SH, Folland JP, Gohlke P, Dhamrait S, Montgomery HE (2005) Circulating angiotensin converting enzyme activity is correlated with muscle strength. Med Sci Sports Exerc 37:944–948PubMed Williams AG, Day SH, Folland JP, Gohlke P, Dhamrait S, Montgomery HE (2005) Circulating angiotensin converting enzyme activity is correlated with muscle strength. Med Sci Sports Exerc 37:944–948PubMed
Zurück zum Zitat Woods D, Hickman M, Jamshidi Y, Brull D, Vassiliou V, Jones A, Humphries S, Montgomery H (2001a) Elite swimmers and the D allele of the ACE I/D polymorphism. Hum Genet 108(3):230–232CrossRefPubMed Woods D, Hickman M, Jamshidi Y, Brull D, Vassiliou V, Jones A, Humphries S, Montgomery H (2001a) Elite swimmers and the D allele of the ACE I/D polymorphism. Hum Genet 108(3):230–232CrossRefPubMed
Zurück zum Zitat Woods D, Onambele G, Woledge R, Skelton D, Bruce S, Humphries SE, Montgomery H (2001b) Angiotensin I converting enzyme genotype-dependent benefit from hormone replacement therapy in isometric muscle strength and bone mineral density. J Clin Endocrinol Metab 86:2200–2204CrossRefPubMed Woods D, Onambele G, Woledge R, Skelton D, Bruce S, Humphries SE, Montgomery H (2001b) Angiotensin I converting enzyme genotype-dependent benefit from hormone replacement therapy in isometric muscle strength and bone mineral density. J Clin Endocrinol Metab 86:2200–2204CrossRefPubMed
Zurück zum Zitat Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73:627–631CrossRefPubMed Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73:627–631CrossRefPubMed
Zurück zum Zitat Zhang B, Tanaka H, Shono N, Miura S, Kiyonaga A, Shindo M, Saku K (2003) The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibres in human skeletal muscle. Clin Genet 62(2):139–144CrossRef Zhang B, Tanaka H, Shono N, Miura S, Kiyonaga A, Shindo M, Saku K (2003) The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibres in human skeletal muscle. Clin Genet 62(2):139–144CrossRef
Metadaten
Titel
ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men
verfasst von
Tracey McCauley
Sarabjit S. Mastana
Jonathan P. Folland
Publikationsdatum
01.05.2010
Verlag
Springer-Verlag
Erschienen in
European Journal of Applied Physiology / Ausgabe 2/2010
Print ISSN: 1439-6319
Elektronische ISSN: 1439-6327
DOI
https://doi.org/10.1007/s00421-009-1340-y

Weitere Artikel der Ausgabe 2/2010

European Journal of Applied Physiology 2/2010 Zur Ausgabe

Neu im Fachgebiet Arbeitsmedizin

Elterliches Belastungserleben, Unaufmerksamkeits‑/Hyperaktivitätssymptome und elternberichtete ADHS bei Kindern und Jugendlichen: Ergebnisse aus der KiGGS-Studie

Open Access ADHS Leitthema

Die Aufmerksamkeitsdefizit‑/Hyperaktivitätsstörung (ADHS) ist eine der häufigsten psychischen Störungen im Kindes- und Jugendalter [ 1 ]. In Deutschland beträgt die Prävalenz einer elternberichteten ADHS-Diagnose bei Kindern und Jugendlichen 4,4 % …

Substanzkonsum und Nutzung von sozialen Medien, Computerspielen und Glücksspielen unter Auszubildenden an beruflichen Schulen

Open Access Leitthema

Die Begrenzung von Schäden durch Substanzkonsum und andere abhängige Verhaltensweisen von Jugendlichen und jungen Erwachsenen ist ein wichtiges Anliegen der öffentlichen Gesundheit. Der Übergang von der Adoleszenz zum jungen Erwachsenenalter ist …

Berufsbelastung und Stressbewältigung von weiblichen und männlichen Auszubildenden

Leitthema

In der Öffentlichkeit wird die berufliche Ausbildung oftmals unter ökonomischen Gesichtspunkten diskutiert: Mit den geburtenstarken Jahrgängen gehen erfahrene Fachkräfte in Rente und von nachfolgenden Generationen rücken zu wenige Arbeitskräfte …

Rauschtrinken in der frühen Adoleszenz

COVID-19 Leitthema

Alkohol ist in Deutschland die mit Abstand am häufigsten konsumierte psychoaktive Substanz. Mehr als 2 Drittel aller Erwachsenen im Alter von 18 bis 64 Jahren (70,5 %) hat 2021 in den letzten 30 Tagen Alkohol konsumiert [ 1 ]. Von diesen …