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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.