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J Appl Physiol 103: 315-322, 2007. First published April 26, 2007; doi:10.1152/japplphysiol.00185.2007
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AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects

Heléne Fischer,1 Mona Esbjörnsson,1 Richard L. Sabina,3 Anna Strömberg,1 Myriam Peyrard-Janvid,2 and Barbara Norman1

1Department of Laboratory Medicine, Division of Clinical Physiology, Karolinska University Hospital, Huddinge; and 2Department of Biosciences and Nutrition at Novum, Karolinska Institutet, Stockholm, Sweden; and 3Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin

Submitted 13 February 2007 ; accepted in final form 23 April 2007

AMP deaminase (AMPD) deficiency is an inherited disorder of skeletal muscle found in ~2% of the Caucasian population. Although most AMPD-deficient individuals are asymptomatic, a small subset has exercise-related cramping and pain without any other identifiable neuromuscular complications. This heterogeneity has raised doubts about the physiological significance of AMPD in skeletal muscle, despite evidence for disrupted adenine nucleotide catabolism during exercise in deficient individuals. Previous studies have evaluated the effect of AMPD deficiency on exercise performance with mixed results. This study was designed to circumvent the perceived limitations in previous reports by measuring exercise performance during a 30-s Wingate test in 139 healthy, physically active subjects of both sexes, with different AMPD1 genotypes, including 12 AMPD-deficient subjects. Three of the deficient subjects were compound heterozygotes characterized by the common c.34C>T mutation in one allele and a newly discovered AMPD1 mutation, c.404delT, in the other. While there was no significant difference in peak power across AMPD1 genotypes, statistical analysis revealed a faster power decrease in the AMPD-deficient group and a difference in mean power across the genotypes (P = 0.0035). This divergence was most striking at 15 s of the 30-s cycling. Assessed by the fatigue index, the decrease in power output at 15 s of exercise was significantly greater in the deficient group compared with the other genotypes (P = 0.0006). The approximate 10% lower mean power in healthy AMPD-deficient subjects during a 30-s Wingate cycling test reveals a functional role for the AMPD1 enzyme in sprint exercise.

myoadenylate deaminase deficiency; lactate; exercise; skeletal muscle; fatigue



Address for reprint requests and other correspondence: B. Norman, Dept. of Laboratory Medicine, Div. of Clinical Physiology, Karolinska Univ. Hospital, Huddinge, 14186 Stockholm, Sweden (e-mail: Barbara.Norman{at}ki.se)




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Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes
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[Abstract] [Full Text] [PDF]




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