The influence of alpha actinins on human performance in health and disease

Funding Activity

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Funded Activity Summary

We have identified a common genetic variation that results in absence of the fast muscle fibre protein, a-actinin-3, in over 1 billion people worldwide. Loss of a-actinin-3 influences elite athletic performance and skeletal muscle function in the general population by altering efficiency of muscle metabolism. We will now study mice and humans to determine how a-actinin-3 deficiency influences normal muscle function with age, response to exercise and the severity of human muscle disease.

Funded Activity Details

Start Date: 01-01-2008

End Date: 01-01-2011

Funding Scheme: NHMRC Project Grants

Funding Amount: $480,989.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Genetics Not Elsewhere Classified

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

cytoskeletal proteins | disease modifier | disease-modifying locus | genetic disease | human performance | molecular evolution | muscular dystrophy | myopathy | population genetics | transgenic animals