A Gene for Speed: The Emerging Role of α-Actinin-3 in Muscle Metabolism

被引：89
作者：
Berman, Yemima [1 ,2 ,3 ]
North, Kathryn N. [1 ,2 ]
机构：
[1] Childrens Hosp, Inst Neurosci & Muscle Res, Westmead, NSW, Australia
[2] Univ Sydney, Fac Med, Sydney, NSW 2006, Australia
[3] Royal N Shore Hosp, Dept Clin Genet, St Leonards, NSW 2065, Australia
来源：
PHYSIOLOGY | 2010年 / 25卷 / 04期
关键词：
ACTN3 R577X POLYMORPHISM; CHICKEN SKELETAL-MUSCLE; ACTIN-BINDING PROTEINS; ALPHA-ACTININ; GLYCOGEN-CONTENT; Z-DISC; ENDURANCE PERFORMANCE; SARCOMERIC PROTEIN; FILAMIN-BINDING; GENOTYPE;
D O I：
10.1152/physiol.00008.2010
中图分类号：
Q4 [生理学];
学科分类号：
071003 ;
摘要：
A common polymorphism (R577X) in the ACTN3 gene results in complete deficiency of alpha-actinin-3 protein in similar to 16% of humans worldwide. The presence of alpha-actinin-3 protein is associated with improved sprint/power performance in athletes and the general population. Despite this, there is evidence that the null genotype XX has been acted on by recent positive selection, likely due to its emerging role in the regulation of muscle metabolism. alpha-Actinin-3 deficiency reduces the activity of glycogen phosphorylase and results in a fundamental shift toward more oxidative pathways of energy utilization.
引用
收藏
页码：250 / 259
页数：10
相关论文
共 86 条
  • [1] Myosin heavy chain isoforms in postnatal muscle development of mice
    Agbulut, O
    Noirez, P
    Beaumont, F
    Butler-Browne, G
    [J]. BIOLOGY OF THE CELL, 2003, 95 (06) : 399 - 406
  • [2] AHMETOV II, 1977, BR J SPORTS IN PRESS
  • [3] PRIMARY STRUCTURE OF CHICKEN SKELETAL-MUSCLE AND FIBROBLAST ALPHA-ACTININS DEDUCED FROM CDNA SEQUENCES
    ARIMURA, C
    SUZUKI, T
    YANAGISAWA, M
    IMAMURA, M
    HAMADA, Y
    MASAKI, T
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1988, 177 (03): : 649 - 655
  • [4] Regulation of fuel metabolism by preexercise muscle glycogen content and exercise intensity
    Arkinstall, MJ
    Bruce, CR
    Clark, SA
    Rickards, CA
    Burke, LM
    Hawley, JA
    [J]. JOURNAL OF APPLIED PHYSIOLOGY, 2004, 97 (06) : 2275 - 2283
  • [5] Binding of α-actinin to titin:: Implications for Z-disk assembly
    Atkinson, RA
    Joseph, C
    Dal Piaz, F
    Birolo, L
    Stier, G
    Pucci, P
    Pastore, A
    [J]. BIOCHEMISTRY, 2000, 39 (18) : 5255 - 5264
  • [6] SUBSTRATE DEPLETION IN DIFFERENT TYPES OF MUSCLE AND IN LIVER DURING PROLONGED RUNNING
    BALDWIN, KM
    REITMAN, JS
    TERJUNG, RL
    WINDER, WW
    HOLLOSZY, JO
    [J]. AMERICAN JOURNAL OF PHYSIOLOGY, 1973, 225 (05): : 1045 - 1050
  • [7] Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies
    Bang, ML
    Mudry, RE
    McElhinny, AS
    Trombitás, K
    Geach, AJ
    Yamasaki, R
    Sorimachi, H
    Granzier, H
    Gregorio, CC
    Labeit, S
    [J]. JOURNAL OF CELL BIOLOGY, 2001, 153 (02) : 413 - 427
  • [8] CLONING, SEQUENCING, AND MAPPING OF AN ALPHA-ACTININ GENE FROM THE NEMATODE CAENORHABDITIS-ELEGANS
    BARSTEAD, RJ
    KLEIMAN, L
    WATERSTON, RH
    [J]. CELL MOTILITY AND THE CYTOSKELETON, 1991, 20 (01): : 69 - 78
  • [9] BEGGS AH, 1992, J BIOL CHEM, V267, P9281
  • [10] ISOLATION AND SOME PROPERTIES OF MACROPHAGE ALPHA-ACTININ - EVIDENCE THAT IT IS NOT AN ACTIN GELLING PROTEIN
    BENNETT, JP
    ZANER, KS
    STOSSEL, TP
    [J]. BIOCHEMISTRY, 1984, 23 (21) : 5081 - 5086
123456789