The effect of α-actinin-3 deficiency on muscle aging

Experimental Gerontology

Volumn 46, Issue 4, 2011, Pages 292-302

  Seto, Jane T ^a,b   Chan, Stephen ^c   Turner, Nigel ^c,d   MacArthur, Daniel G ^a,b   Raftery, Joanna M ^a   Berman, Yemima D ^a,b   Quinlan, Kate G R ^a,b   Cooney, Gregory J ^c,d   Head, Stewart ^c   Yang, Nan ^a,b   North, Kathryn N ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b University of Sydney   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

ACTN3; Fatigability; Metabolism; Muscle mass; Muscle strength

Indexed keywords

ALPHA ACTININ 3;

AEROBIC METABOLISM; AGING; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FAST MUSCLE; FEMALE; GENOTYPE; GRIP STRENGTH; MALE; MOUSE; MUSCLE ATROPHY; MUSCLE FATIGUE; MUSCLE FORCE; MUSCLE FUNCTION; MUSCLE MASS; NONHUMAN; PRIORITY JOURNAL; WILD TYPE;

ACTININ; AGED; AGING; ANIMALS; CODON, NONSENSE; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; MALE; MICE; MICE, 129 STRAIN; MICE, KNOCKOUT; MUSCLE FIBERS, SKELETAL; MUSCLE STRENGTH; MUSCLE, SKELETAL; SARCOPENIA;

MUS;

EID: 79952704977     PISSN: 05315565     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exger.2010.11.006     Document Type: Article

References (26)

1. Bustamante-Ara N., Santiago C., Verde Z., Yvert T., Gomez-Gallego F., Rodriguez-Romo G., Gonzalez-Gil P., Serra-Rexach J.A., Ruiz J.R., Lucia A. ACE and ACTN3 genes and muscle phenotypes in nonagenarians. Int. J. Sports Med. 2010, 31(4):221-224.
2. Carmeli E., Coleman R., Reznick A.Z. The biochemistry of aging muscle. Exp. Gerontol. 2002, 37:477-489.
3. Chan S., Seto J.T., Houweling P.J., Yang N., North K.N., Head S.I. Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle Nerve 2011, 43:37-48.
4. Clarkson P.M., Devaney J.M., Gordish-Dressman H., Thompson P.D., Hubal M.J., Urso M., Price T.B., Angelopoulos T.J., Gordon P.M., Moyna N.M., Pescatello L.S., Visich P.S., Zoeller R.F., Seip R.L., Hoffman E.P. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J. Appl. Physiol. 2005, 99:154-163.
5. Delmonico M.J., Kostek M.C., Doldo N.A., Hand B.D., Walsh S., Conway J.M., Carignan C.R., Roth S.M., Hurley B.F. Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. J. Gerontol. A Biol. Sci. Med. Sci. 2007, 62:206-212.
6. Delmonico M.J., Zmuda J.M., Taylor B.C., Cauley J.A., Harris T.B., Manini T.M., Schwartz A., Li R., Roth S.M., Hurley B.F., Bauer D.C., Ferrell R.E., Newman A.B. Association of the ACTN3 genotype and physical functioning with age in older adults. J. Gerontol. A Biol. Sci. Med. Sci. 2008, 63:1227-1234.
7. Doherty T.J. Invited review: aging and sarcopenia. J. Appl. Physiol. 2003, 95:1717-1727.
8. Eynon N., Duarte J.A., Oliveira J., Sagiv M., Yamin C., Meckel Y., Sagiv M., Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int. J. Sports Med. 2009, 30:695-698.
9. Garton F., Seto J.T., North K.N., Yang N. Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscul. Disord. 2010, 20:540-547.
10. Gregorevic P., Meznarich N.A., Blankinship M.J., Crawford R.W., Chamberlain J.S. Fluorophore-labeled myosin-specific antibodies simplify muscle-fiber phenotyping. Muscle Nerve 2008, 37:104-106.
11. Houweling P.J., North K.N. Sarcomeric α-actinins and their role in human muscle disease. Future Neurol. 2009, 4:731-743.
12. Judson R.N., Wackerhage H., Hughes A., Mavroeidi A., Barr R.J., Macdonald H.M., Ratkevicius A., Reid D.M., Hocking L.J. The Functional ACTN3 577X Variant Increases the Risk of Falling in Older Females: Results From Two Large Independent Cohort Studies. J Gerontol A Biol Sci Med Sci. 2011, 66:130-135.
13. Koch L.G., Britton S.L. Artificial selection for intrinsic aerobic endurance running capacity in rats. Physiol. Genomics 2001, 5:45-52.
14. Lucas C.A., Kang L.H., Hoh J.F. Monospecific antibodies against the three mammalian fast limb myosin heavy chains. Biochem. Biophys. Res. Commun. 2000, 272:303-308.
15. MacArthur D.G., Seto J.T., Chan S., Quinlan K.G., Raftery J.M., Turner N., Nicholson M.D., Kee A.J., Hardeman E.C., Gunning P.W., Cooney G.J., Head S.I., Yang N., North K.N. An Actn3 knockout mouse provides mechanistic insights into the association between {alpha}-actinin-3 deficiency and human athletic performance. Hum. Mol. Genet. 2008, 17:1076-1086.
16. MacArthur D.G., Seto J.T., Raftery J.M., Quinlan K.G., Huttley G.A., Hook J.W., Lemckert F.A., Kee A.J., Edwards M.R., Berman Y., Hardeman E.C., Gunning P.W., Easteal S., Yang N., North K.N. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat. Genet. 2007, 39:1261-1265.
17. McCauley T., Mastana S.S., Folland J.P. ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men. Eur. J. Appl. Physiol. 2010, 109:269-277.
18. Morley J.E., Baumgartner R.N., Roubenoff R., Mayer J., Nair K.S. Sarcopenia. J. Lab. Clin. Med. 2001, 137:231-243.
19. North K.N., Yang N., Wattanasirichaigoon D., Mills M., Easteal S., Beggs A.H. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat. Genet. 1999, 21:353-354.
20. Pette D., Staron R.S. Myosin isoforms, muscle fiber types, and transitions. Microsc. Res. Tech. 2000, 50:500-509.
21. San Juan A.F., Gomez-Gallego F., Canete S., Santiago C., Perez M., Lucia A. Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report. Br. J. Sports Med. 2006, 40:e1.
22. Storer J.B. Longevity and gross pathology at death in 22 inbred mouse strains. J. Gerontol. 1966, 21:404-409.
23. Walsh S., Liu D., Metter E.J., Ferrucci L., Roth S.M. ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J. Appl. Physiol. 2008, 105:1486-1491.
24. Yang N., Garton F., North K. Alpha-actinin-3 and performance. Med. Sport Sci. 2009, 54:88-101.
25. Yang N., MacArthur D.G., Gulbin J.P., Hahn A.G., Beggs A.H., Easteal S., North K. ACTN3 genotype is associated with human elite athletic performance. Am. J. Hum. Genet. 2003, 73:627-631.
26. Zempo H., Tanabe K., Murakami H., Iemitsu M., Maeda S., Kuno S. ACTN3 polymorphism affects thigh muscle area. Int. J. Sports Med. 2010, 31:138-142.