RT Journal Article
SR Electronic
T1 The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease
JF British Journal of Sports Medicine
JO Br J Sports Med
FD BMJ Publishing Group Ltd and British Association of Sport and Exercise Medicine
SP 134
OP 140
DO 10.1136/bjsm.2007.038992
VO 42
IS 2
A1 F Gómez-Gallego
A1 C Santiago
A1 M Morán
A1 M Pérez
A1 J L Maté-Muñoz
A1 M Fernández del Valle
A1 J C Rubio
A1 I Garcia-Consuegra
A1 C Foster
A1 I A L Andreu
A1 M A Martín
A1 J Arenas
A1 A Lucia
YR 2008
UL http://bjsm.bmj.com/content/42/2/134.abstract
AB Background: McArdle disease is an uncommon metabolic disorder usually characterized by marked exercise intolerance although great individual variability exists in its phenotypic manifestation.Objective: The purpose of this study was to determine the association between angiotensin-converting enzyme (ACE) genotypes and indices of exercise capacity (peak oxygen uptake (VO2peak), ventilatory threshold (VT) and gross mechanical efficiency (GE)) in patients with McArdle disease. Based on previous research, it was hypothesized that the I allele might favourably influence exercise capacity.Methods: Forty-four Spanish patients (23 males, 21 females) and 44 age-matched and gender-matched controls (23 males, 21 females) performed a graded cycle-ergometer test until exhaustion (for VO2peak and VT determination) and a 12 min constant-load test at the power output eliciting the VT (for GE determination).Results: No significant difference (p>0.05) was found in indices of exercise capacity between ID + II genotypes and DD homozygotes in the group of male patients, male controls and female controls. However, in the group of female patients, the ID + II group (n = 11) had a higher VO2peak than DD homozygotes (n = 10) (15.8 (SEM 1.6) ml/kg/min versus 11.9 (SEM 0.9) ml/kg/min, respectively; p<0.05).Conclusions: The I allele of the ACE gene is associated with a higher functional capacity in female patients, and might partly explain the individual variability in the phenotypic manifestation of McArdle disease.