Deficiency of muscle α-actinin-3 is compatible with high muscle performance

Journal of Molecular Neuroscience

Volumn 20, Issue 1, 2003, Pages 39-42

  Zanoteli, Edmar ^a   Lotuffo, Renato M ^a   Oliveira, Acary S B ^a   Beggs, Alan H ^b   Canovas, Marta ^c   Zatz, Mayana ^c   Vainzof, Mariz ^c  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

actinin 3; Athletes; Marathon runners; Muscle fiber type; Myosin isoforms

Indexed keywords

ALPHA ACTININ; ISOPROTEIN; PROTEIN SUBUNIT;

ADULT; ARTICLE; ATHLETE; BIOCHEMICAL COMPOSITION; CONTROLLED STUDY; ENDURANCE; FAST MUSCLE FIBER; FEMALE; HUMAN; HUMAN TISSUE; MALE; MARATHON RUNNER; MOLECULAR BIOLOGY; MUSCLE FUNCTION; PROTEIN EXPRESSION; SLOW MUSCLE FIBER; TISSUE LEVEL; VASTUS LATERALIS MUSCLE;

ACTININ; ADULT; CELL DIFFERENTIATION; FEMALE; HUMANS; LEG; MALE; MUSCLE CONTRACTION; MUSCLE FIBERS, FAST-TWITCH; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE, SKELETAL; MYOSINS; PHYSICAL FITNESS; PROTEIN ISOFORMS;

ELAGATIS;

EID: 12444316141     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1385/JMN:20:1:39     Document Type: Article

References (13)

1. Andersen J. L., Schjerling P., and Saltin B. (2000) Muscle, genes and athletic performance. Sci. Am. 283, 48-55.
2. Beggs A. H., Byers T. J., Knoll J. H. M., et al. (1992) Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J. Biol. Chem. 267, 9281-9288.
3. Bottinelli R. and Reggiani C. (2000) Human skeletal muscle fibres: molecular and functional diversity. Prog. Biophys. Mol. Biol. 73, 195-262.
4. Clarkson P. M., Kroll W., and McBride T. C. (1980) Maximal isometric strength and fiber type composition in power and endurance athletes. Eur. J. Appl. Physiol. 44, 35-42.
5. Coggan A. R., Spina R. J., Rogers M. A., et al. (1990) Histochemical and enzymatic characteristics of skeletal muscle in master athletes. J. Appl. Physiol. 68, 1896-1901.
6. Costill D. L., Fink W. J., and Pollock M. L. (1976) Muscle fiber composition and enzyme activities of elite distance runners. Med. Sci. Sports 8, 96-100.
7. Dubowitz V. (1985) Muscle Biopsy: A Practical Approach, 2nd ed., Bailliere Tindall, London.
8. Ho-Kim M-A., Bedard A., Vincent M., et al. (1991) Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates. Biochem. Biophys. Res. Commun. 181, 1164-1172.
9. North K. N. and Beggs A. H. (1996) Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul. Disord. 6, 229-235.
10. North K. N., Yang N., Wattanasirichaigoon D., et al. (1999) A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat. Genet. 21, 353-354.
11. Ricoy J. R., Encinas A. R., Cabello A., et al. (1998) Histochemical study of the vastus lateralis muscle types of athletes. J. Physiol. Biochem. 54, 41-47.
12. Vainzof M., Costa C. S., Marie S. N., et al. (1997) Deficiency of α-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. Neuropediatrics 28, 223-228.
13. Vainzof M., Zubrzycka-Gaarn E. E., Rapaport D., et al. (1991) Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein. J. Neurol. Sci. 101, 141-147.