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

页码：250 / 259

页数：10

共 86 条

[21] EFFECTS OF ECCENTRIC AND CONCENTRIC MUSCLE ACTIONS IN RESISTANCE TRAINING [J].

COLLIANDER, EB ;

TESCH, PA .

ACTA PHYSIOLOGICA SCANDINAVICA, 1990, 140 (01) :31-39

[22] MUSCLE GLYCOGEN UTILIZATION DURING EXHAUSTIVE RUNNING [J].

COSTILL, DL ;

SPARKS, K ;

GREGOR, R ;

TURNER, C .

JOURNAL OF APPLIED PHYSIOLOGY, 1971, 31 (03) :353-&

[23] A discrete amino terminal domain of Kv1.5 and Kv1.4 potassium channels interacts with the spectrin repeats of α-actinin-2 [J].

Cukovic, D ;

Lu, GWK ;

Wible, B ;

Steele, DF ;

Fedida, D .

FEBS LETTERS, 2001, 498 (01) :87-92

[24] Association of the ACTN3 Genotype and Physical Functioning With Age in Older Adults [J].

Delmonico, Matthew J. ;

Zmuda, Joseph M. ;

Taylor, Brent C. ;

Cauley, Jane A. ;

Harris, Tamara B. ;

Martini, Todd M. ;

Schwartz, Ann ;

Li, Rongling ;

Roth, Stephen M. ;

Hurley, Ben F. ;

Bauer, Douglas C. ;

Ferrell, Robert E. ;

Newman, Anne B. .

JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES, 2008, 63 (11) :1227-1234

[25] Association of the ACTN3 R577X polymorphism with power athlete status in Russians [J].

Druzhevskaya, Anastasiya M. ;

Ahmetov, Ildus I. ;

Astratenkova, Irina V. ;

Rogozkin, Viktor A. .

EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY, 2008, 103 (06) :631-634

[26] ACTN3 R577X Polymorphism and Israeli Top-level Athletes [J].

Eynon, N. ;

Duarte, J. A. ;

Oliveira, J. ;

Sagiv, M. ;

Yamin, C. ;

Meckel, Y. ;

Sagiv, M. ;

Goldhammer, E. .

INTERNATIONAL JOURNAL OF SPORTS MEDICINE, 2009, 30 (09) :695-698

[27] ZASP: A new Z-band alternatively spliced PDZ-motif protein [J].

Faulkner, G ;

Pallavicini, A ;

Formentin, E ;

Comelli, A ;

Ievolella, C ;

Trevisan, S ;

Bortoletto, G ;

Scannapieco, P ;

Salamon, M ;

Mouly, V ;

Valle, G ;

Lanfranchi, G .

JOURNAL OF CELL BIOLOGY, 1999, 146 (02) :465-475

[28] FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle [J].

Faulkner, G ;

Pallavicini, A ;

Comelli, A ;

Salamon, M ;

Bortoletto, G ;

Ievolella, C ;

Trevisan, S ;

Kojic, S ;

Dalla Vecchia, F ;

Laveder, P ;

Valle, G ;

Lanfranchi, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (52) :41234-41242

[29] α-Actinin is a potent regulator of G protein-coupled receptor kinase activity and substrate specificity in vitro [J].

Freeman, JLR ;

Pitcher, JA ;

Li, XL ;

Bennett, V ;

Lefkowitz, RJ .

FEBS LETTERS, 2000, 473 (03) :280-284

[30] Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins [J].

Frey, N ;

Olson, EN .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (16) :13998-14004

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