单磷酸腺苷脱氨酶缺乏症的遗传预测因子

L. Hayes, Fraser E. Houston, J. Baker
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引用次数: 0

摘要

在大多数人群中,在高强度运动中,腺苷单磷酸脱氨酶(AMPD)将腺苷单磷酸(AMP)转化为肌苷单磷酸(IMP),并在此过程中释放氨。在运动过程中,AMPD反应在ATP形成的方向上取代腺苷酸激酶平衡,提供额外的能量并防止ADP的大量增加。AMPD缺乏被认为会导致更快的疲劳发展和更早的肌肉收缩抑制。这篇综述考虑了一些导致骨骼肌AMPD缺乏的基因突变,它们的病理和可能的疾病症状。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Predictors of Adenosine Monophosphate Deaminase Deficiency
In the majority of the population, during high intensity exercise, Adenosine Monohosphate Deaminase (AMPD) Converts Adenosine Monophosphate (AMP) to Inosine Monophosphate (IMP), with the liberation of ammonia in the process. The AMPD reaction displaces the adenylate kinase equilibrium in the direction of ATP formation during exercise, providing additional energy and preventing a large increase in ADP. AMPD deficiency has been proposed to result in faster fatigue development and earlier inhibition of muscle contractions. This review considers a number of genetic mutations that lead to skeletal muscle AMPD deficiency, their pathology and likely symptoms of the disorder.
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