scispace - formally typeset
Search or ask a question
Journal ArticleDOI

Alpha-actinin-3 levels increase concomitantly with fast fibers in rat soleus muscle.

TL;DR: This study examined alpha-actinin-3 levels in the soleus muscles of rats subjected to hindlimb unloading, which causes a slow-to-fast fiber transformation in thesoleus muscle, and results indicate that alpha-Actinin3 levels increase concomitantly with increases in skeletal muscle fast fibers.
About: This article is published in Biochemical and Biophysical Research Communications.The article was published on 2008-08-08. It has received 20 citations till now. The article focuses on the topics: Skeletal muscle & Soleus muscle.
Citations
More filters
Journal ArticleDOI
TL;DR: It is concluded that the ACTN3 R allele is associated with top-level sprint performance and the X allele and XX genotypes may not be critical but rather additive to endurance performance.
Abstract: Corrigendum / Erratum / Correction to: ACTN3 R577X Polymorphism and Israeli Top-level Athletes ---- Int J Sports Med 2009; 30(09): 695-698 DOI: 10.1055/s-0029-1220731

178 citations

Journal ArticleDOI
TL;DR: It is concluded that professional soccer athletes homozygous to ACTN3XX gene are more susceptible to eccentric damage and present a higher catabolic state, demonstrated by metabolic, hormonal and immune responses post an eccentric training, in comparison to ACTn3RR andACTN3RX groups.
Abstract: Genetic factors can interfere with sporting performance. The identification of genetic predisposition of soccer players brings important information to trainers and coaches for individual training loads adjustment. Different responses to eccentric training could be observed by the genotype referred to as α-actinin-3 (ACTN3) in biomarkers of muscle damage, hormones and inflammatory responses. The aim of this study was to compare acute inflammatory responses, muscle damage and hormonal variations according to the eccentric training in soccer professional athletes with different genetic profiles of ACTN3 (XX, RX and RR). 37 soccer professional athletes (9 XX, 13 RX, 15 RR) were randomly divided into five stations associated to eccentric muscle contraction and plyometrics. Blood samples were taken from athletes pre-eccentric training, immediately after (post), 2- and 4-h post-eccentric training to determine hormone responses (cortisol and testosterone), muscle damage (CK and α-actin), and inflammatory responses (IL-6). After eccentric training, athletes XX presented higher levels for CK (4-h post), α-actin (post and 2-h post) and cortisol (post) compared to RR and RX athletes. However, RR and RX athletes presented higher levels of testosterone (post) and IL-6 (2 h post and 4 h post) compared to athletes XX. The main conclusion of this study is that professional soccer athletes homozygous to ACTN3XX gene are more susceptible to eccentric damage and present a higher catabolic state, demonstrated by metabolic, hormonal and immune responses post an eccentric training, in comparison to ACTN3RR and ACTN3RX groups.

99 citations


Cites background from "Alpha-actinin-3 levels increase con..."

  • ...Genetic factors may interfere with sports performance when they determine the adaptability to training (Clarkson et al. 2005; Delmonico et al. 2007; Norman et al. 2009; Ogura et al. 2008)....

    [...]

Journal ArticleDOI
TL;DR: The results of the present study suggest that ACTN3 R577X polymorphism influences muscle mass in older Japanese women.
Abstract: Muscle mass is an important factor influencing the activity of daily living in older adults. We aimed to investigate whether alpha-actinin-3 (ACTN3) gene R577X polymorphism affects muscle mass in older Japanese women. A total of 109 women (mean+/-SD, 64.1+/-6.0 years) were genotyped for the R/X variant of ACTN3. Mid-thigh muscle cross-sectional area (CSA) was assessed using MRI and compared using analysis of covariance models adjusted for body weight. In addition, physical activity and protein intake were measured as the living environmental factors affecting muscle mass. The ACTN3 R577X genotype distributions of the subjects were 19, 63 and 27 for the RR, RX, and XX genotypes, respectively. No differences in physical activity and protein intake were observed among the genotypes. The XX genotype showed lower thigh muscle CSA compared with RRR XX: 69.1+/-1.8 cm(2), RRR p<0.05). The results of the present study suggest that ACTN3 R577X polymorphism influences muscle mass in older Japanese women.

65 citations

Journal ArticleDOI
TL;DR: Neighbouring muscle fibres showed strong heterogeneity in morphological behaviour after thermal treatment, suggesting that differences in composition and structure of the cytoskeleton proteins in the different fibres can cause denaturation/shrinkage of the proteins at different times along the timescale of microstructural changes during heating.

36 citations

Journal ArticleDOI
TL;DR: The above data suggest that ACE ID/ ACTN3 R577X genotype combination is associated with sprint ability, however, ACE ID-ACN3-R577XGenotypes combination is not related to the level of performance.
Abstract: Functional R577X (rs.1815739) and ID (rs.5186) polymorphisms in the alpha-actinin-3 ( ACTN3) and the angiotensin converting enzyme (ACE) genes, respectively, have been associated with sprint performance. The aim of this study was to determine their effect on sprint performance among 81 Israeli sprinters and 240 healthy controls. Results revealed that the ACE II genotype+ ACTN3 R allele (P=0.003 for sprinters vs. controls), and the ACTN3 RR genotype +ACE I allele (P=0.001 for sprinters vs. controls) might be the genotype for sprinters. In the whole cohort the probability of ACTN3 RR genotype+ ACE I allele being a sprinter (odds ratio 2.67, 95% confidence interval 1.45-4.93) and of ACE II genotype+ ACTN3 R allele being a sprinter (odds ratio 3.57, 95% confidence interval 1.78-7.15) was significantly higher than that in the controls. In conclusion, the above data suggest that ACE ID/ ACTN3 R577X genotype combination is associated with sprint ability. However, ACE ID/ ACTN3 R577X genotype combination is not related to the level of performance.

36 citations

References
More filters
Journal ArticleDOI
TL;DR: The fiber population of skeletal muscles encompasses a continuum of pure and hybrid fiber types, and under certain conditions, changes can be induced in MHC isoform expression heading in the direction of either fast‐to‐slow or slow‐ to‐fast.
Abstract: Skeletal muscle is an extremely heterogeneous tissue composed of a variety of fast and slow fiber types and subtypes. Moreover, muscle fibers are versatile entities capable of adjusting their phenotypic properties in response to altered functional demands. Major differences between muscle fiber types relate to their myosin complement, i.e., isoforms of myosin light and heavy chains. Myosin heavy chain (MHC) isoforms appear to represent the most appropriate markers for fiber type delineation. On this basis, pure fiber types are characterized by the expression of a single MHC isoform, whereas hybrid fiber type express two or more MHC isoforms. Hybrid fibers bridge the gap between the pure fiber types. The fiber population of skeletal muscles, thus, encompasses a continuum of pure and hybrid fiber types. Under certain conditions, changes can be induced in MHC isoform expression heading in the direction of either fast-to-slow or slow-to-fast. Increased neuromuscular activity, mechanical loading, and hypothyroidism are conditions that induce fast-to-slow transitions, whereas reduced neuromuscular activity, mechanical unloading, and hyperthyroidism cause transitions in the slow-to-fast direction.

821 citations

Journal ArticleDOI
TL;DR: Associations between ACTN3 genotype and athletic performance suggest that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, and provides an evolutionary advantage because of increased sprint performance.
Abstract: There is increasing evidence for strong genetic influences on athletic performance and for an evolutionary “trade-off” between performance traits for speed and endurance activities. We have recently demonstrated that the skeletal-muscle actin-binding protein α-actinin-3 is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 gene, R577X. α-Actinin-3 is specifically expressed in fast-twitch myofibers responsible for generating force at high velocity. The absence of a disease phenotype secondary to α-actinin-3 deficiency is likely due to compensation by the homologous protein, α-actinin-2. However, the high degree of evolutionary conservation of ACTN3 suggests function(s) independent of ACTN2. Here, we demonstrate highly significant associations between ACTN3 genotype and athletic performance. Both male and female elite sprint athletes have significantly higher frequencies of the 577R allele than do controls. This suggests that the presence of α-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, and provides an evolutionary advantage because of increased sprint performance. There is also a genotype effect in female sprint and endurance athletes, with higher than expected numbers of 577RX heterozygotes among sprint athletes and lower than expected numbers among endurance athletes. The lack of a similar effect in males suggests that the ACTN3 genotype affects athletic performance differently in males and females. The differential effects in sprint and endurance athletes suggests that the R577X polymorphism may have been maintained in the human population by balancing natural selection.

778 citations

Journal ArticleDOI
TL;DR: To ascertain whether α-actinin-3 deficiency was associated with mutations of ACTN3, an RT-PCR approach was used to amplify mRNA isolated from diagnostic muscle biopsies and identified two changes relative to controls and the previously determined sequence M86407.
Abstract: T he α-actinins are actin-binding proteins encoded by a multigene family. In skeletal muscle, they are a major structural component of the Z-lines that anchor the actin-containing thin filaments and maintain the spatial relationship between myofilaments 1. In humans, two genes (ACTN2 and ACTN3) encode the closely related α-actinin-2 and α-actinin-3 skeletal muscle iso-forms 2. ACTN2 is expressed in all skeletal muscle fibres, whereas expression of ACTN3 is limited to a subset of type 2 (fast) fibres 3. We have previously demonstrated absence of α-actinin-3 in muscle biopsies from several patients with muscular dystrophy 3. A follow-up study identified additional α-actinin-3−negative biopsies from neuromuscular patients with other known diseases, suggesting that this deficiency was not the primary cause of muscle weakness 4. Subsequently, we screened muscle specimens with dys-trophic (118 specimens), myopathic (74), neurogenic (20) and normal (55) features (Fig. 1a−d). Although these biopsies contained normal α-actinin-2 expression, deficiency of α-actinin-3 was identified by immunocytochemistry and western blot in 51 of 267 cases (19%), a finding not associated with any particular histo-pathological or clinical phenotype. To ascertain whether α-actinin-3 deficiency was associated with mutations of ACTN3, we used an RT-PCR approach to amplify mRNA isolated from diagnostic muscle biopsies. Using primer pairs AB16/AB9 (5´–GATGGTTATGCAGCCCGAGG–3ánd 5´–AGCAACGCCCGCACCTCCT–3´) and AB8/AB1 (5´–TGCACGAAGCCTG-GACCC–3ánd 5´–AGAGAGGGATCTT-TATTCAG–3´), we PCR-amplified two overlapping fragments encompassing bases 24−2,852 of ACTN3 mRNA (ref. 2). Initially, we focused on one family with two affected male siblings with congenital muscular dystrophy and complete deficiency of α-actinin-3. Sequencing of ACTN3 cDNA from the proband identified two changes relative to controls and the previously determined sequence M86407. These were an A→G transition at nt 1,586 in exon 15, changing a gluta-mine (CAG) to an arginine (CGG) at residue 523 (Q523R), and a C→T trans-version at position 1,747 in exon 16, converting an arginine to a stop codon at residue 577 (R577X; Fig. 1e−g). Direct sequencing of genomic DNA from the proband and the affected sibling confirmed homozygosity for both point mutations. Subsequent testing of the parents and two unaffected siblings revealed that these phenotypically normal individuals had the same genotype as the proband and were thus homozygous for the ACTN3 577X nonsense mutation. The R577X change creates a novel DdeI site (Fig. 1h). An additional 125 biopsies for which matched DNA samples were available were tested for α-actinin-3 expression and ACTN3 genotype (48 α-actinin-3−deficient and 77 α-actinin-3− positive biopsies with a mixture of histological and clinical …

375 citations

Journal ArticleDOI
TL;DR: In this paper, the authors determined mtDNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes, and found that the frequencies of mtDNA haplogroups differed significantly between the two groups.
Abstract: Differences in ACTN3 (alpha-actinin 3) genotypes have been reported among endurance and power athletes. Elite athletic performance in endurance sports should also depend on mitochondrial oxidative phosphorylation (OXPHOS) that produces ATP for muscle metabolism. We determined mitochondrial DNA (mtDNA) and ACTN3 genotypes in Finnish elite endurance (n = 52) and sprint (n = 89) athletes, and found that the frequencies of mtDNA haplogroups differed significantly between the two groups. Most notably, none of the endurance athletes belonged to haplogroup K or subhaplogroup J2, both of which have previously been associated with longevity. The frequency of ACTN3 XX genotype was higher and that of RR was lower among Finnish endurance athletes, and, in addition, none of the top Finnish sprinters had the XX genotype. Lack of mtDNA haplogroup K and subhaplogroup J2 among elite endurance athletes suggests that these haplogroups are 'uncoupling genomes'. Such genomes should not be beneficial to endurance-type athletic performance but should be beneficial to longevity, since uncoupling of OXPHOS reduces the production of ATP, reduces the release of reactive oxygen species and generates heat.

313 citations

Journal ArticleDOI
TL;DR: Associations between ACTN3 genotype and muscle size and elbow flexor isometric and dynamic strength in a large group of men and women enrolled in a 12-wk standardized elbowflexor/extensor resistance training program of the nondominant arm were studied.
Abstract: The α-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of ACTN3 results in complete loss of the protein. The ACTN3 genotype (R577X) has been found to be assoc...

306 citations