The Actn3 (r577x) Genotype Is Associated with Fiber Type Distribution Introduction
The Actn3 (r577x) Genotype Is Associated with Fiber Type Distribution Introduction
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Actn3 (r577x) 基因型与纤维类型分布相关
DOI：
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发表时间：
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影响因子：
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通讯作者：
Martine Thomis
中科院分区：
文献类型：
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作者：
Barbara Vincent;Katrien De Bock;M. Ramaekers;Els Van;Den Eede;M. Leemputte;P. Hespel;Martine Thomis;Martine Thomis
α-辅肌动蛋白-3是一种Z盘结构蛋白，仅在II型肌纤维中发现。ACTN 3基因中R577 X多态性的X等位基因导致XX纯合子中提前终止密码子和α-辅肌动蛋白-3缺陷。以前的研究报道了R577 X多态性与优秀运动员的肌肉力量表现之间的强烈关联。约45%的纤维类型比例由遗传因素决定。ACTN 3变异体可能通过与钙调神经磷酸酶的相互作用而成为影响纤维类型分布遗传力的基因之一。本研究的目的是量化的多态性和肌纤维类型分布和快速伸膝力量之间的关联。对90名健康年轻男性（18-29岁）进行ACTN 3 R577 X基因分型。在可编程测力计上以等距（45°）和不同动态速度（100-300°/s）测量膝关节伸肌力量。22例XX和22例RR受试者接受了右股外侧肌活检。纤维类型组成通过免疫组织化学测定。与X X携带者相比，R等位基因纯合子在300°/s时显示出显著更高的相对动态股四头肌扭矩（p<0.05）。纤维类型特征在两个基因型组之间差异显著。RR组IIx型纤维的面积百分比和数量均大于XX基因型组（p<0.05），IIx型纤维中α-辅肌动蛋白-3蛋白含量系统性高于IIa型纤维（染色强度比IIx/IIa=1.17）。这项研究表明，ACTN 3多态性对肌肉力量产生影响的机制可能依赖于纤维类型比例的控制功能。
Alpha-actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X-allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and α-actinin-3 deficiency in XX homozygotes. Former studies reported a strong association between the R577X polymorphism and elite athletes' muscle-power performance. About 45% of the fiber type proportions are determined by genetic factors. The ACTN3 variant could be one of the contributing genes in the heritability of fiber type distribution through its interaction with calcineurin. Aim of this study was to quantify the association between the polymorphism and muscle fiber type distribution and fast-velocity knee extension strength. Ninety healthy young men (18-29 yr) were genotyped for ACTN3 R577X. Knee extensor strength was measured isometrically (45°), and at different dyna mic velocities (100-300°/s) on a programmable dynamometer. Twenty-two XX and twenty-two RR subjects underwent a biopsy of the right vastus lateralis muscle. Fiber type composition was determined by immunohistochemistry. Homozygotes for the R-allele show significantly higher relative dynamic quadriceps torques at 300°/s, compared to X X carriers (p<0.05). Fiber type characteristics differed significantly between the two genotype groups. The percentage surface and number of type IIx fibers was greater in the RR than the XX genotype group (p<0.05), and α-actinin-3 protein content is systematically higher in type IIx compared to type IIa fibers (staining intensity ratio IIx/IIa=1.17). This study shows that the mechanism, by which the ACTN3 polymorphism has its effect on muscle power, might rely on a control function of fiber type proportions.
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DOI：
10.1152/ajpcell.2000.279.4.c915
发表时间：
2000-10-01
影响因子：
5.5
作者：
Swoap, SJ;Hunter, RB;Kandarian, SC
通讯作者：
Kandarian, SC
影响因子：
3.5
作者：
Mills, MA;Yang, N;North, KN
通讯作者：
North, KN
影响因子：
10.5
作者：
Chin, ER;Olson, EN;Williams, RS
通讯作者：
Williams, RS
静态和动态臂力的遗传及其一些决定因素。
DOI：
10.1046/j.1365-201x.1998.00344.x
发表时间：
1998
期刊：
Acta physiologica Scandinavica
影响因子：
--
作者：
Thomis,MA;Beunen,GP;VanLeemputte,M;Maes,HH;Blimkie,CJ;Claessens,AL;Marchal,G;Willems,E;Vlietinck,RF
通讯作者：
Vlietinck,RF