Journal article
alpha-Actinin-3 deficiency is associated with reduced bone mass in human and mouse
Nan Yang, Aaron Schindeler, Michelle M McDonald, Jane T Seto, Peter J Houweling, Monkol Lek, Marshall Hogarth, Alyson R Morse, Joanna M Raftery, Dominic Balasuriya, Daniel G MacArthur, Yemima Berman, Kate GR Quinlan, John A Eisman, Tuan V Nguyen, Jacqueline R Center, Richard L Prince, Scott G Wilson, Kathy Zhu, David G Little Show all
Bone | ELSEVIER SCIENCE INC | Published : 2011
Abstract
Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteoporotic fractures. Candidate gene and genome-wide association studies have identified genetic variations in approximately 30 genetic loci associated with BMD variation in humans. α-Actinin-3 (ACTN3) is highly expressed in fast skeletal muscle fibres. There is a common null-polymorphism R577X in human ACTN3 that results in complete deficiency of the α-actinin-3 protein in approximately 20% of Eurasians. Absence of α-actinin-3 does not cause any disease phenotypes in muscle because of compensation by α-actinin-2. However, α-actinin-3 deficiency has been shown to be detrimental to athletic sprint..
View full abstractGrants
Awarded by Australian National Health and Medical Research Council (NHMRC)
Funding Acknowledgements
This project was funded in part by a grant (301950) from the Australian National Health and Medical Research Council (NHMRC).