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The I Allele of the ACE Gene is Associated with Improved Exercise Capacity in Women with McArdle Disease
  1. Félix Gómez-Gallego (felix.gomez{at}uem.es)
  1. Universidad Europea de Madrid, Spain
    1. Catalina Santiago (catalina.santiago{at}uem.es)
    1. Universidad Europea de Madrid, Spain
      1. María Morán (mmoran{at}h12o.es)
      1. Centro de Investigacion, Hospital Universitario 12 de Octubre de Madrid, Spain
        1. Margarita Pérez (margarita.perez{at}uem.es)
        1. Universidad Europea de Madrid, Spain
          1. José L Maté-Muñoz (joseluismate{at}yahoo.es)
          1. Universidad Europea de Madrid, Spain
            1. María Fernández del Valle (maria.fernandezdelvalle{at}gmail.com)
            1. Universidad Europea de Madrid, Spain
              1. Juan C Rubio (jcrubio{at}h12o.es)
              1. Centro de Investigacion, Hospital Universitario 12 de Octubre de Madrid, Spain
                1. Ines Garcia-Consuegra
                1. Centro de Investigacion,Hospital Universitario/C IBERER, Spain
                  1. Carl Foster (foster.carl{at}uwlax.edu)
                  1. Department of Exercise Science, University of Lacrosse, WI, United States
                    1. Antoni L Andreu (tandreu{at}hotmail.com)
                    1. Hospital Universitari Val d'Hebron, Barcelona, Spain
                      1. Miguel A Martín (mamcasanueva{at}h12o.es)
                      1. Centro de Investigacion, Hospital Universitario 12 de Octubre de Madrid, Spain
                        1. Joaquín Arenas (jarenas{at}isciii.es)
                        1. Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain
                          1. Alejandro Lucia (alejandro.lucia{at}uem.es)
                          1. Universidad Europea de Madrid, Spain

                            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.

                            • VO2peak
                            • genotype
                            • glycogenosis type V
                            • myophosphorylase
                            • ventilatory threshold

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