Neerunjun J S, Allsop J, Dubowitz V
Muscle Nerve. 1979 Jan-Feb;2(1):19-23. doi: 10.1002/mus.880020104.
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was measured in red cells and in skeletal muscles of normal and Duchenne subjects. [8-14C] hypoxanthine was used as substrate, and 5-phospho-alpha-D-ribose 1-diphosphate (PRPP) was used as the ribose-5-phosphate donor. The [8-14C] inosine monophosphate (IMP) formed was separated by high-voltage electrophoresis, and radioactivity was measured by lipid scintillation counting. HGPRT activity in Duchenne and normal red-cell hemolysates was similar, but such activity was significantly higher in Duchenne than in normal muscle homogenates. Red cells of both normal and Duchenne subjects had significantly higher enzyme activity than did skeletal muscles. It is suggested that increased HGPRT activity may be involved in enhancing protein synthesis by increasing intracellular levels of purine ribonucleotides.
在正常受试者和杜氏肌营养不良症患者的红细胞及骨骼肌中测量了次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HGPRT）的活性。以[8-¹⁴C]次黄嘌呤作为底物，5-磷酸-α-D-核糖-1-二磷酸（PRPP）作为核糖-5-磷酸供体。通过高压电泳分离生成的[8-¹⁴C]肌苷单磷酸（IMP），并通过液体闪烁计数测量放射性。杜氏肌营养不良症患者和正常红细胞溶血产物中的HGPRT活性相似，但杜氏肌营养不良症患者肌肉匀浆中的该活性显著高于正常肌肉匀浆。正常受试者和杜氏肌营养不良症患者的红细胞酶活性均显著高于骨骼肌。提示HGPRT活性增加可能通过提高细胞内嘌呤核糖核苷酸水平参与增强蛋白质合成。
