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..

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