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.

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收藏

页码：250 / 259

页数：10

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