The effects of ACTN3 R577X on muscle wasting and repair, and response to therapy

Funding Activity

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Funded Activity Summary

Complete loss of ACTN3 is normal and occurs in 1 in 5 people world-wide. While it does not cause disease, loss of ACTN3 results in ~10% reduction in muscle mass and strength. This has tremendous impact not only on the success of elite athletes but also the quality of life in people who are already frail. Precisely how ACTN3 affects muscle mass is unclear. Understanding this will help identify the patients who are at greater risk of muscle wasting and also the therapies that will best treat them.

Funded Activity Details

Start Date: 01-01-2017

End Date: 01-01-2020

Funding Scheme: Project Grants

Funding Amount: $1,066,054.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurogenetics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

genetic risk factors | muscle disease | muscle wasting | phenotype-genotype correlation | signalling pathways