The influence of α-actinin-3 deficiency on bone remodelling markers in young men

Document Type

Journal Article




School of Medical and Health Sciences


Originally published as: Levinger, I., Yan, X., Bishop, D., Houweling, P. J., Papadimitriou, I., Munson, F., ... & Eynon, N. (2017). The influence of α-actinin-3 deficiency on bone remodelling markers in young men. Bone, 98, 26-30. Original article available here


There is a large individual variation in the bone remodelling markers (BRMs) osteocalcin (OC), procollagen 1 N-terminal propeptide (P1NP) and β-isomerized C-terminal telopeptide (β-CTx), as well as undercarboxylated osteocalcin (ucOC), at rest and in response to exercise. α-actinin-3 (ACTN3), a sarcomeric protein, is expressed in skeletal muscle and osteoblasts and may influence BRM levels and the cross-talk between muscle and bone. We tested the levels of serum BRMs in α-actinin-3 deficient humans (ACTN3 XX) at baseline, and following a single bout of exercise. Forty-three healthy Caucasian individuals were divided into three groups (ACTN3 XX, n = 13; ACTN3 RX, n = 16; ACTN3 RR, n = 14). Participants completed a single session of High Intensity Interval Exercise (HIIE) on a cycle ergometer (8 × 2-min intervals at 85% of maximal power). Blood samples were taken before, immediately after, and three hours post exercise to identify the peak changes in serum BRMs. There was a stepwise increase in resting serum BRMs across the ACTN3 genotypes (XX > RX > RR) with significantly higher levels of tOC ~ 26%, P1NP ~ 34%, and β-CTX (~ 33%) in those with ACTN3 XX compared to ACTN3 RR. Following exercise BRMs and ucOC were higher in all three ACTN3 genotypes, with no significant differences between groups.

Serum levels of tOC, P1NP and β-CTX are higher in men with ACTN3 XX genotype (α-actinin-3 deficiency) compared to RR and RX. It appears that the response of BRMs and ucOC to exercise is not explained by the ACTN3 genotype.