MYOADENYLATE DEAMINASE DEFICIENCY - FUNCTIONAL AND METABOLIC ABNORMALITIES ASSOCIATED WITH DISRUPTION OF THE PURINE NUCLEOTIDE CYCLE
MYOADENYLATE DEAMINASE DEFICIENCY - FUNCTIONAL AND METABOLIC ABNORMALITIES ASSOCIATED WITH DISRUPTION OF THE PURINE NUCLEOTIDE CYCLE
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DOI：
10.1172/jci111265
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发表时间：
1984-01-01
影响因子：
15.9
通讯作者：
HOLMES, EW
中科院分区：
文献类型：
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作者：
SABINA, RL;SWAIN, JL;HOLMES, EW
为了评估嘌呤核苷酸循环在人类骨骼肌功能中的作用，对10例AMP脱氨酶缺乏症（肌腺苷酸脱氨酶缺乏症; MDD）患者进行了研究。MDD（4）和非MDD（19）对照组参与了运动方案。后一组由表现出与MDD患者相似的症状群的患者队列（n = 8）组成，即，运动后疼痛、痉挛和疼痛;以及一组正常、无条件的志愿者（n = 11）。患有MDD的人在完成了非MDD的28%的工作后就会感到疲劳。结果表明，AMP脱氨酶缺乏导致减少腺嘌呤核苷酸进入嘌呤核苷酸循环在运动过程中。由此产生的嘌呤核苷酸的破坏显然解释了在这些患者中观察到的肌肉功能障碍。
To assess the role of the purine nucleotide cycle in human skeletal muscle function, 10 patients with AMP deaminase deficiency (myoadenylate deaminase deficiency; MDD) were studied. MDD (4) and non-MDD (19) controls participated in an exercise protocol. The latter group was composed of a patient cohort (n = 8) exhibiting a constellation of symptoms similar to those of the MDD patients, i.e., postexertional aches, cramps and pains; as well as a cohort of normal, unconditioned volunteers (n = 11). The indivudals with MDD fatigued after performing only 28% as much work as their non-MDD counterparts. Results demonstrate that AMP deaminase deficiency leads to reduced entry of adenine nucleotides into the purine nucleotide cycle during exercise. The resultant disruption of the purine nucleotide evidently accounts for the muscle dysfunction observed in these patients.