Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy

Suminaga, Ryo; Matsuo, Masafumi; Takeshima, Yasuhiro; Nakamura, Hajime; Wada, Hiroyoshi

doi:10.1002/(sici)1096-8628(20000501)92:1<77::aid-ajmg13>3.0.co;2-q

Cited by 17 publications

(15 citation statements)

References 4 publications

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“…Similar conclusions were found for GSDII, in which we observed a correlation between the D alleles of the ACE gene and earlier onset of the disease and more aggressive disease course [10]. Conversely, no association was found between ACTN3 R/X polymorphisms and indices of clinical severity in dystrophinopathies [26]. To our knowledge, with the exception of ACE I/D in Mc Ardle disease and GSDII, and of ACTN3 in muscular dystrophy, exercise gene polymorphisms have not been tested in other neuromuscular disorders.…”

Section: Discussionsupporting

confidence: 86%

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Ravaglia

Filippi

Pichiecchio

et al. 2012

Molecular Genetics and Metabolism

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Section: Discussionsupporting

confidence: 86%

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Ravaglia

Filippi

Pichiecchio

et al. 2012

Molecular Genetics and Metabolism

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“…Genotyping of the ACTN3 R577X polymorphism was performed using polymerase chain reaction (PCR) according to the method of Clarkson et al [6] . This assay has been previously validated through DNA sequencing [23] . Briefl y, a 489-bp fragment of ACTN3 , consisting of exons 15 and 16, was amplifi ed by PCR using primers ACTN3-E15F 5 ' -CGCCCT-TCAACAACTGGCTGGA-3 ′ and ACTN3-E16R 5 ' -GGGTGATGTAG-GGATTGGTGGAG-3 ′ .…”

Section: Genotypingmentioning

confidence: 99%

ACTN3R577X Polymorphism and Israeli Top-level Athletes

Eynon

Duarte²,

Oliveira³

et al. 2009

Int J Sports Med

166

127

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A common genetic variation in the alpha-actinin-3 ( ACTN3) gene causes a replacement of an arginine (R) with a premature stop codon (X) at amino-acid 577 (rs1815739). While the R allele has been found to be associated with power-oriented performance, the XX genotype may be linked with endurance ability. To test this hypothesis, we studied the distribution of ACTN3 genotypes in 155 Israeli athletes (age=35.9+12.2 years) classified by sport (endurance runners and sprinters) and in 240 sedentary individuals. The sprinters' allele frequencies (AF: R/X=0.7/0.3) and 577RR genotype distribution percentage (GD: RR=52%) differed markedly from those of the endurance athletes (AF: R/X=0.53/0.47, p=0.000007; GD: RR=18%, p=0.00009) and the control group (AF: R/X=0.55/0.45, p=0.0002; GD: RR=27.3%, p=0.000003). A comparison between the top-level and national-level sprinters revealed that the R allele occurs more often in the top-level sprinters. A significantly higher proportion of the XX genotype was observed in endurance athletes (34%) compared with controls (18%, p=0.02) and sprinters (13%, p=0.002). However, top-level and national level endurance athletes had similar allele and genotype frequencies. We conclude 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.

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“…Genotyping of the ACTN3 R577X polymorphism was performed using polymerase chain reaction (PCR) according to the method of Clarkson et al [4] . This assay has been previously validated through DNA sequencing [27] . Briefl y, a 489-bp fragment of ACTN3 , consisting of exons 15 and 16, was amplifi ed by PCR using primers ACTN3-E15F 5 ′ -CGCCCTTCAACAACTGGCTGGA-3 ′ and ACTN3 -E16R 5 ′ -GGGTGATGTAGGGATTGGTGGAG-3 ′ .…”

Section: Genotypingmentioning

confidence: 99%

Is There anACE ID–ACTN3 R577XPolymorphisms Interaction that Influences Sprint Performance?

Eynon

Alves²,

Chen³

et al. 2009

Int J Sports Med

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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.

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Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy

Cited by 17 publications

References 4 publications

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

ACTN3R577X Polymorphism and Israeli Top-level Athletes

Is There anACE ID–ACTN3 R577XPolymorphisms Interaction that Influences Sprint Performance?

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