The effect of AMPD1 genotype on blood flow response to sprint exercise

Abstract

Inherited deficiency of skeletal muscle myoadenylate deaminase (mAMPD) is a genetic disorder characterized primarily by a 34C>T transition in exon 2 of the AMPD1 gene. mAMPD deficient individuals exhibit alterations in ATP catabolic flow, resulting in greater adenosine accumulation during high intensity exercise that may possibly enhance exercise-induced hyperaemia. This study tested the hypothesis that individuals with diminished mAMPD activity due to mutations in the AMPD1 gene develop a greater and faster blood flow response to high intensity exercise than individuals with two AMPD1 normal alleles (NN). Four 34C>T homozygotes, two compound heterozygotes (34C>T in one allele and a recently identified 404delT mutation in the other AMPD1 allele), collectively termed MM, one 34C>T heterozygote (NM) and eight NN males were studied. They performed a 30 s Wingate cycling test with monitoring of power output and other parameters of exercise performance. Common femoral artery blood flow was measured before and after (up to 25 min) exercise, using ultrasonography. Mean power during Wingate cycling was approximately 10% lower in MM/NM than in NN; p<0.01. Blood flow response to exercise also differed between MM/NM and NN individuals (ANOVA; p<0.001). There was also a difference in peak post-exercise blood flow (p<0.05), and the subsequent fall in blood flow during the recovery phase (T1/2) occurred more than twice as fast in MM/NM compared to NN subjects (7.8+/-1.1 min vs. 16.1+/-1.4 min, p<0.001). These results suggest a better circulatory adaptation to exercise in individuals with diminished mAMPD activity, probably due to an AMPD1 genotype-dependent increase in adenosine formation.

ACTN3 and AMPD1 Polymorphism and Genotype Combinations in Bulgarian Athletes Performing Wingate Test

“…A null TT genotype and low T unaffected by AMPD1 genotypes [13]. In contrast, a faster power decrease and a lower mean power was demonstrated in individuals with TT and CT genotypes during the 30 s cycling test [27].…”

“…The CC genotype and C allele are considered to be related to performance in power-oriented athletes, and T allele might be a negative factor for athletic performance [29]. However, it was reported that high intensity anaerobic performance was not influenced by AMPD1 genotypes [13].…”

“…The AMPD enzyme catalyses the deamination of AMP (adenosine monophosphate) to IMP (inosine monophosphate), thereby reducing the accumulation of ADP (adenosine diphosphate) and shifting the balance of the myokinase reaction towards ATP generation [6]. The AMPD1 gene is an important regulator of cellular energy metabolism during high-intensity physical exercise [13,21]. Individuals with the unfavourable mutant TT genotype might show diminished exercise capacity and cardio-respiratory response to exercise [7].…”

“…The Wingate test is one of the gold standards and one of the most popular laboratory protocols for assessment of anaerobic capacity [25,31,33,34,36]. Research data about its relationship with genetic traits is scarce [13,24,37].…”

DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle

“…AMPD1 is preferentially expressed at high levels in type II skeletal muscle, where it influences the levels of inorganic phosphate, AMP, ADP, and phosphocreatine (Coley et al, 2012). Patients with an inherited defect in AMPD1 expression often have significantly decreased muscle performance, suggesting that the purine nucleotide catabolic pathway plays a role in short-term energy production (Fischer et al, 2007;Norman et al, 2008). The AMPD1 gene is highly expressed in skeletal muscle, and is involved in the rate-limiting step of the purine nucleotide cycle, allowing repletion of ATP stores.…”