A gene for speed : the influence of ACTN3 on muscle performance in health and disease

P. Houweling; J. Seto; F. Garton; K. Quinlan; S. Head; K. North

doi:10.1016/j.nmd.2015.06.011

A gene for speed : the influence of ACTN3 on muscle performance in health and disease

P. Houweling
, J. Seto
, F. Garton
, K. Quinlan
, S. Head
, K. North

Research output: Contribution to journal › Article › peer-review

Abstract

Î±-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic and signalling proteins. A common ACTN3 null polymorphism (R577X) is the most widely studied and best replicated genetic variant known to influence the skeletal muscle performance. ACTN3 genotype contributes ~2.5% of the variance in human muscle strength and exercise training response, is a risk factor for falling in the elderly and a genetic modifier of muscle disorders such as Duchenne muscular dystrophy.

Original language	English
Pages (from-to)	S185-S185
Number of pages	1
Journal	Neuromuscular Disorders
Volume	25
Issue number	Supplement 2
DOIs	https://doi.org/10.1016/j.nmd.2015.06.011
Publication status	Published - 2015

Keywords

proteins
Duchenne muscular dystrophy

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10.1016/j.nmd.2015.06.011

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title = "A gene for speed : the influence of ACTN3 on muscle performance in health and disease",

abstract = "{\^I}±-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic and signalling proteins. A common ACTN3 null polymorphism (R577X) is the most widely studied and best replicated genetic variant known to influence the skeletal muscle performance. ACTN3 genotype contributes \textasciitilde{}2.5\% of the variance in human muscle strength and exercise training response, is a risk factor for falling in the elderly and a genetic modifier of muscle disorders such as Duchenne muscular dystrophy.",

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author = "P. Houweling and J. Seto and F. Garton and K. Quinlan and S. Head and K. North",

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language = "English",

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T1 - A gene for speed : the influence of ACTN3 on muscle performance in health and disease

AU - Houweling, P.

AU - Seto, J.

AU - Garton, F.

AU - Quinlan, K.

AU - Head, S.

AU - North, K.

PY - 2015

Y1 - 2015

N2 - Î±-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic and signalling proteins. A common ACTN3 null polymorphism (R577X) is the most widely studied and best replicated genetic variant known to influence the skeletal muscle performance. ACTN3 genotype contributes ~2.5% of the variance in human muscle strength and exercise training response, is a risk factor for falling in the elderly and a genetic modifier of muscle disorders such as Duchenne muscular dystrophy.

AB - Î±-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic and signalling proteins. A common ACTN3 null polymorphism (R577X) is the most widely studied and best replicated genetic variant known to influence the skeletal muscle performance. ACTN3 genotype contributes ~2.5% of the variance in human muscle strength and exercise training response, is a risk factor for falling in the elderly and a genetic modifier of muscle disorders such as Duchenne muscular dystrophy.

KW - proteins

KW - Duchenne muscular dystrophy

UR - http://handle.westernsydney.edu.au:8081/1959.7/uws:42986

U2 - 10.1016/j.nmd.2015.06.011

DO - 10.1016/j.nmd.2015.06.011

M3 - Article

SN - 0960-8966

VL - 25

SP - S185-S185

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - Supplement 2

ER -

A gene for speed : the influence of ACTN3 on muscle performance in health and disease

Abstract

Keywords

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