Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) in ACTN3 results in significantly reduced muscle strength and a longer 10 m walk test time in young, ambulant p...

PURPOSE To determine the frequency of the ACTN3 R577X polymorphism (functional R allele and nonfunctional X allele) in a variety of African populations and to examine its influence on the success of elite East African endurance runners and West African sprinters. METHODS The R577X polymorphism was genotyped in 198 Ethiopian controls and 76 elite Ethiopian endurance athletes, 158 Kenyan contro...

The alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organisation and muscle contraction. alpha-actinin-3 is the most-highly specialised of the four mammalian alpha-actinins, with its expression restricted largely to fast glycolytic fibres in skeletal muscle. Intriguingly, a significant proportion ( approximately 18%) of th...

A common variant of the ACTN3 gene, R577X, results in complete deficiency of the alpha-actinin-3 protein in the fast skeletal muscle fibers of more than a billion humans worldwide. We review the evidence that this genetic variant is strongly associated with elite athlete status and with normal variation in human muscle strength and sprinting speed.

Objective: The present study aims to examine investigation the -actinin-3 (ACTN3) gene polymorphism (rs1815739) and functional movement screen (FMS) values in young runners competing at national level. Material Methods: Forty-five (29 male 64.4%, 16 female 35.6%) level different clubs affiliated Turkish Athletic Federation training regularly least 5 days a week voluntarily participated study. ...

background ability of athletes in speed or endurance contests somehow is determined by inherited muscle fiber types. one of the important genes involved in sport genetics is actn3 that is located on chromosome 11q13-q14 and encodes α-actinin-3, which belongs to highly conserved family of α-actinin proteins. genetic analysis of α-actinin-3 gene has showed a polymorphism r577x (rs1815739), which ...

As human longevity increases, recent research has focused on the maintenance of optimal health during old age. One such area of focus is that of muscle function in the elderly, with a loss of muscle mass increasing the risk of negative outcomes such as sarcopenia and a decrease in bone mineral density. In this mini-review, we focus on the impact of a single nucleotide polymorphism in ACTN3, sho...