Document Type

Journal Article

Publication Title

Scientific Reports

ISSN

2045-2322

Volume

9

Issue

1

First Page

12688

Last Page

12688

PubMed ID

31481717

Publisher

Springer

School

School of Medical and Health Sciences

RAS ID

31235

Comments

Papadimitriou, I. D., Eynon, N., Yan, X., Munson, F., Jacques, M., Kuang, J., ... Bishop, D. J. (2019). A “human knockout” model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations. Scientific Reports, 9, Article 12688. Available here

Abstract

Research in α-actinin-3 knockout mice suggests a novel role for α-actinin-3 as a mediator of cell signalling. We took advantage of naturally-occurring human "knockouts" (lacking α-actinin-3 protein) to investigate the consequences of α-actinin-3 deficiency on exercise-induced changes in mitochondrial-related genes and proteins, as well as endurance training adaptations. At baseline, we observed a compensatory increase of α-actinin-2 protein in ACTN3 XX (α-actinin-3 deficient; n = 18) vs ACTN3 RR (expressing α-actinin-3; n = 19) participants but no differences between genotypes for markers of aerobic fitness or mitochondrial content and function. There was a main effect of genotype, without an interaction, for RCAN1-4 protein content (a marker of calcineurin activity). However, there was no effect of genotype on exercise-induced expression of genes associated with mitochondrial biogenesis, nor post-training physiological changes. In contrast to results in mice, loss of α-actinin-3 is not associated with higher baseline endurance-related phenotypes, or greater adaptations to endurance exercise training in humans.

DOI

10.1038/s41598-019-49042-y

Creative Commons License

Creative Commons Attribution-Noncommercial 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License

Research Themes

Society and Culture

Priority Areas

Human movement and performance

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