Literature DB >> 20699471

A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism.

Yemima Berman1, Kathryn N North.   

Abstract

A common polymorphism (R577X) in the ACTN3 gene results in complete deficiency of alpha-actinin-3 protein in approximately 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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Year:  2010        PMID： 20699471     DOI： 10.1152/physiol.00008.2010

Source DB:  PubMed          Journal:  Physiology (Bethesda)        ISSN： 1548-9221


  30 in total

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Review 3.  Mitochondrial dysfunction and insulin resistance from the outside in: extracellular matrix, the cytoskeleton, and mitochondria.

Authors:  Dawn K Coletta; Lawrence J Mandarino
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4.  Genetics and the Elite Athlete: Our Understanding in 2020.

Authors:  Rakesh John; Mandeep Singh Dhillon; Sidak Dhillon
Journal:  Indian J Orthop       Date:  2020-03-11       Impact factor: 1.251

5.  Genetic polymorphisms associated with exertional rhabdomyolysis.

Authors:  Patricia A Deuster; Carmen L Contreras-Sesvold; Francis G O'Connor; William W Campbell; Kimbra Kenney; John F Capacchione; Mark E Landau; Sheila M Muldoon; Elisabeth J Rushing; Yuval Heled
Journal:  Eur J Appl Physiol       Date:  2013-03-31       Impact factor: 3.078

6.  ACTN3 gene variants as potential phenotype and performance biomarkers in Brazilian sport horses training for eventing in a tropical climate.

Authors:  Felipe Gomes Ferreira Padilha; Kênia Balbi El-Jaick; Liane de Castro; Aline Dos Santos Moreira; Fernando Queiroz de Almeida; Ana Maria Reis Ferreira
Journal:  Can J Vet Res       Date:  2018-07       Impact factor: 1.310

7.  ACTN3 R577X genotypes associate with Class II and deepbite malocclusions.

Authors:  Brian Zebrick; Teesit Teeramongkolgul; Romain Nicot; Michael J Horton; Gwenael Raoul; Joel Ferri; Alexandre R Vieira; James J Sciote
Journal:  Am J Orthod Dentofacial Orthop       Date:  2014-10-28       Impact factor: 2.650

Review 8.  More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries.

Authors:  Juan Del Coso; Danielle Hiam; Peter Houweling; Laura M Pérez; Nir Eynon; Alejandro Lucía
Journal:  Eur J Appl Physiol       Date:  2018-10-16       Impact factor: 3.078

Review 9.  Genes for elite power and sprint performance: ACTN3 leads the way.

Authors:  Nir Eynon; Erik D Hanson; Alejandro Lucia; Peter J Houweling; Fleur Garton; Kathryn N North; David J Bishop
Journal:  Sports Med       Date:  2013-09       Impact factor: 11.136

10.  Transgenic muscle-specific Nor-1 expression regulates multiple pathways that effect adiposity, metabolism, and endurance.

Authors:  Michael A Pearen; Joel M Goode; Rebecca L Fitzsimmons; Natalie A Eriksson; Gethin P Thomas; Gary J Cowin; S-C Mary Wang; Zewen K Tuong; George E O Muscat
Journal:  Mol Endocrinol       Date:  2013-09-24
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