The I Allele of the ACE Gene is Associated with Improved Exercise Capacity in Women with McArdle Disease

Félix Gómez-Gallego ¹, Catalina Santiago ¹, María Morán ², Margarita Pérez ¹, José L Maté-Muñoz ¹, María Fernández del Valle ¹, Juan C Rubio ², Ines Garcia-Consuegra ³, Carl Foster ⁴, Antoni L Andreu ⁵, Miguel A Martín ², Joaquín Arenas ⁶ and Alejandro Lucia ^1*

¹ Universidad Europea de Madrid, Spain
² Centro de Investigacion, Hospital Universitario 12 de Octubre de Madrid, Spain
³ Centro de Investigacion,Hospital Universitario/C IBERER, Spain
⁴ Department of Exercise Science, University of Lacrosse, WI, United States
⁵ Hospital Universitari Val d'Hebron, Barcelona, Spain
⁶ Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain

^* To whom correspondence should be addressed. E-mail: alejandro.lucia{at}uem.es.

Accepted 26 June 2007

Abstract

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.

Key Words: VO₂peak, genotype, glycogenosis type V, myophosphorylase, ventilatory threshold

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