Article
The ACTN3 R577X polymorphism is associated with metabolic alterations in a sex-dependent manner in subjects from western Mexico.
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association - 1 Aug 2022
Barrón-Cabrera Elisa, Torres-Castillo Nathaly, González-Becerra Karina, Zepeda-Carrillo Eloy A, Torres-Valadez Rafael, Hernández-Cañaveral Iván, Martínez-López Erika
Abstract excerpt
BACKGROUND: The ACTN3 gene is primarily expressed in fast skeletal muscle fibres. A common nonsense polymorphism in this gene is ACTN3 R577X (rs1815739), which causes an absolute deficiency of α-actinin-3 protein and alterations in muscle metabolism. Considering metabolic alterations are influenced by nutrition and genetic factors, as well as lifestyle factors, we hypothesise a possible association of the ACTN3...
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