The effect of AMPD1 genotype on blood flow response to sprint exercise
The effect of AMPD1 genotype on blood flow response to sprint exercise
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DOI：
10.1007/s00421-008-0683-0
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发表时间：
2008-05-01
影响因子：
3
通讯作者：
Sabina, Richard L.
中科院分区：
文献类型：
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作者：
Norman, Barbara;Nygren, Anders T.;Sabina, Richard L.
遗传性骨骼肌肌腺苷酸脱氨酶 (mAMPD) 缺陷是一种遗传性疾病，其主要特征是 AMPD1 基因外显子 2 中的 34C > T 转变。 mAMPD 缺陷个体表现出 ATP 分解代谢流的改变，导致高强度运动期间腺苷积累更多，这可能会增强运动引起的充血。这项研究检验了这样的假设：由于 AMPD1 基因突变，mAMPD 活性降低的个体比具有两个 AMPD1 正常等位基因 (NN) 的个体对高强度运动产生更大、更快的血流反应。研究了四个 34C > T 纯合子、两个复合杂合子（一个等位基因中的 34C > T 和另一个 AMPD1 等位基因中最近鉴定的 404delT 突变），统称为 MM、一个 34C > T 杂合子 (NM) 和八个 NN 男性。他们进行了 30 秒的 Wingate 自行车测试，监测功率输出和其他运动表现参数。使用超声检查在运动前后（最多 25 分钟）测量股总动脉血流量。 MM/NM 中 Wingate 循环期间的平均功率比 NN 低约 10%； p < 0.01。 MM/NM 和 NN 个体对运动的血流反应也不同（方差分析；p < 0.001）。运动后血流量峰值也存在差异 (p < 0.05)，并且 MM/NM 患者在恢复阶段 (T1/2) 血流量下降的速度是 NN 受试者的两倍多 (7.8 +/- 1.1 分钟 vs. 16.1 +/- 1.4 分钟，p < 0.001)。这些结果表明，mAMPD 活性降低的个体对运动有更好的循环适应，这可能是由于 AMPD1 基因型依赖性腺苷形成的增加。
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.