Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle

Physiological Reports
Isabelle RiedlJuleen R Zierath

Abstract

A common polymorphism (R577X) in the α-actinin (ACTN) 3 gene, which leads to complete deficiency of a functional protein in skeletal muscle, could directly influence metabolism in the context of health and disease. Therefore, we tested the hypothesis that states of glucose tolerance are associated with the ACTN3 R577X genotype. We analyzed the prevalence of the ACTN3 R577X polymorphism in people with normal glucose tolerance (NGT) and type 2 diabetes (T2D) and measured muscle-specific α-actinin 2 and 3 mRNA and protein abundance in skeletal muscle biopsies. Furthermore, we investigated the protein abundance of the myosin heavy chain isoforms and the components of the mitochondrial electron transport chain in skeletal muscle from people with NGT or T2D. mRNA of selected sarcomeric z-disk proteins was also assessed. Although the prevalence of the ACTN3 577XX genotype was higher in T2D patients, genotype distribution was unrelated to metabolic control or obesity. ACTN2 and ACTN3 mRNA expression and protein abundance was unchanged between NGT and T2D participants. Protein abundance of mitochondrial complexes II and IV was related to genotype and glucose tolerance status. Gene expression of sarcomeric z-disk proteins was increased i...Continue Reading

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Citations

Mar 16, 2017·International Journal of Obesity : Journal of the International Association for the Study of Obesity·P J HouwelingK N North
Sep 24, 2015·Physiological Genomics·Fleur C GartonAlejandro Lucia
Feb 9, 2018·Frontiers in Genetics·Craig Pickering, John Kiely
Sep 3, 2020·International Journal of Obesity : Journal of the International Association for the Study of Obesity·Patrícia Britto CostaCarlos Castilho Barros
Jun 7, 2017·BioMed Research International·Maosen YeYan Wang
Sep 3, 2020·International Journal of Environmental Research and Public Health·Witold ŚmigielskiWojciech Drygas
Nov 10, 2021·Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association·Elisa Barrón-CabreraErika Martínez-López

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Methods Mentioned

BETA
genotyping
PCR
biopsies
protein assay

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