Leuzzi Vincenzo, Alessandrì Maria G, Casarano Manuela, Battini Roberta, Cioni Giovanni
Department of Child Neurology and Psychiatry, University of Rome La Sapienza, 00185 Rome, Italy.
Anal Biochem. 2008 Apr 1;375(1):153-5. doi: 10.1016/j.ab.2008.01.018. Epub 2008 Jan 18.
Creatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far. Because the transport of creatine (Cr) precursors Gly and Arg is not affected in this disorder, we tested the possible corrective effect of these two amino acids on Cr depletion in lymphoblasts lacking the transporter. Substrates enriched with Arg or Arg plus Gly increased the concentration of intracellular Cr in affected cells as well as in control cells. The greatest effect was obtained with 10 and 15 mM Arg and 10mM Arg plus Gly. These results encourage an in vivo trial with Cr precursors in CT1 defect.
肌酸转运蛋白1（CT1）缺陷是一种导致严重神经功能障碍的X连锁疾病。迄今为止，尚无针对这种病症的治疗方法。由于在这种疾病中肌酸（Cr）前体甘氨酸（Gly）和精氨酸（Arg）的转运未受影响，我们测试了这两种氨基酸对缺乏该转运蛋白的淋巴母细胞中Cr消耗的可能纠正作用。富含精氨酸或精氨酸加甘氨酸的底物增加了受影响细胞以及对照细胞中细胞内肌酸的浓度。使用10 mM和15 mM精氨酸以及10 mM精氨酸加甘氨酸时效果最佳。这些结果促使开展针对CT1缺陷使用肌酸前体进行的体内试验。
