A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism.
Physiology (Bethesda)
; 25(4): 250-9, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20699471
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Actinina
/
Músculo Esquelético
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Physiology (Bethesda)
Assunto da revista:
FISIOLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Austrália