Background: McArdle disease is an uncommon metabolic disorder usually characterized by marked exercise intolerance although great individual variability exists in its phenotype 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, we hypothesized that the I allele might favourably influence exercise capacity.
Methods: Forty-four Spanish patients (23 males, 21 females) and forty-four age 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: We found no significant difference (P>0.05) 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±1.6 vs. 11.9±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.
- glycogenosis type V
- ventilatory threshold
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