AMPD1 Genotypes and Exercise Capacity in McArdle Patients

• DOI: 10.1055/s-2007-965358
• Publication Date: 2008-03-25T06:13:14Z
• Authors: J. Rubio; M. Pérez; J. Maté-Muñoz; I. García-Consuegra; C. Chamorro-Viña; M. Fernández del ...; A. Andreu; M. Martín; J. Arenas; A. Lucia
• Keywords: Cycle ergometer; AMP deaminase; Physical exercise

The purpose of this study was to assess if there exists an association between C34T muscle adenosine monophosphate deaminase (AMPD1) genotypes (i.e., normal homyzygotes [CC] vs. heterozygotes [CT]) and directly measured indices exercise capacity (peak oxygen uptake [V·O2peak], ventilatory threshold [VT], gross mechanical efficiency [GE], etc.) in 44 Caucasian McArdle patients (23 males, 21 females). All performed a graded cycle ergometer test until exhaustion (for V·O2peak VT determination) 12-min constant-load at the power output eliciting GE determination). We found no significant difference CC (n = 18) CT 5) group male (p > 0.05). In contrast, V·O2 significantly lower < 0.05) 4; 7.9 ± 0.4 ml/kg/min) than female 17; 11.0 0.9 ml/kg/min). summary, heterozigosity for allele AMPD gene is associated with reduced submaximal aerobic disease might partly account, gender, variability that phenotypic manifestation disease.