title: The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease.
abstract: We assessed the possible association existing between alpha-actinin-3 (ACTN3) R577X genotypes and the capacity for performing aerobic exercise in McArdle's patients. Forty adult McArdle's disease patients and forty healthy, age and gender-matched sedentary controls (21 men, 19 women in both groups) performed a graded test until exhaustion and a constant-load test on a cycle-ergometer to determine clinically relevant indices of exercise capacity as peak oxygen uptake (VO(2peak)) and the ventilatory threshold (VT). In the group of diseased women, carriers of the X allele had a higher (P<0.01) VO(2peak) (15.0+/-1.2 ml/kg/min) and a higher (P<0.05) oxygen uptake (VO(2)) at the VT (11.2+/-1 ml/kg/min) than R/R homozygotes (VO(2peak): 9.6+/-0.5 ml/kg/min; VO(2) at the VT: 8.2+/-0.7 ml/kg/min). No differences were found in male patients. In women with McArdle's disease, ACTN3 genotypes might partly explain the large individual variability that exists in the phenotypic manifestation of this disorder.
authors.affiliation: Universidad Europea de Madrid, Madrid, Spain. alejandro.lucia@uem.es
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
authors.forename: Félix
authors.initials: F
authors.lastname: Gómez-Gallego
authors.forename: Catalina
authors.initials: C
authors.lastname: Santiago
authors.forename: Margarita
authors.initials: M
authors.lastname: Pérez
authors.forename: José L
authors.initials: JL
authors.lastname: Maté-Muñoz
authors.forename: Carolina
authors.initials: C
authors.lastname: Chamorro-Viña
authors.forename: Gisela
authors.initials: G
authors.lastname: Nogales-Gadea
authors.forename: Carl
authors.initials: C
authors.lastname: Foster
authors.forename: Juan C
authors.initials: JC
authors.lastname: Rubio
authors.forename: Antoni L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000185:Actinin / Q000235:genetics*; D000328:Adult; D000483:Alleles; D041321:Chromosomes, Human, X; D015444:Exercise; D005080:Exercise Test; D005260:Female; D005838:Genotype; D006012:Glycogen Storage Disease Type V / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption; D010641:Phenotype; D012727:Sex Characteristics
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin