Micheli V, Simmonds H A, Bari M, Pompucci G
Dipartimento di Biologia Molecolare, Università di Siena, Italy.
Clin Chim Acta. 1993 Oct 29;220(1):1-17. doi: 10.1016/0009-8981(93)90002-l.
The nucleotide concentrations in acid and alkaline erythrocyte extracts have been measured by RP-HPLC in healthy controls and in patients bearing different inherited disorders, with altered erythrocyte NAD(P) levels. The objective was the simultaneous determination of the nucleotide profile and of the oxidative state of pyridine coenzymes by the most suitable extraction method. Both alkaline and acid extractions were necessary to obtain the complete pattern, due to defective recovery of the oxidized or reduced coenzymes, respectively, during the extraction procedures. Purine nucleotide quantification seemed to be reliable by all methods. High NADP+ levels were confirmed in two glucose-6-phosphate dehydrogenase deficient patients, coupled with raised NAD levels, lowered NADPH/NADP+ ratio and increased NADH/NAD+ ratio. Higher NAD+ and normal or lower NADH/NAD+ ratios were found in two hypoxanthine-phosphoribosyltransferase deficient patients, while a patient with superactive phosphoribosylpyrophosphate synthetase showed a decreased NADH level in addition to the low NAD+ level previously found.
已通过反相高效液相色谱法(RP-HPLC)测量了健康对照者以及患有不同遗传性疾病且红细胞NAD(P)水平改变的患者的酸性和碱性红细胞提取物中的核苷酸浓度。目的是通过最合适的提取方法同时测定核苷酸谱和吡啶辅酶的氧化状态。由于在提取过程中分别存在氧化型或还原型辅酶回收缺陷,因此需要进行碱性和酸性提取才能获得完整的图谱。所有方法对嘌呤核苷酸的定量似乎都是可靠的。在两名葡萄糖-6-磷酸脱氢酶缺乏症患者中证实了高NADP+水平,同时伴有NAD水平升高、NADPH/NADP+比值降低和NADH/NAD+比值增加。在两名次黄嘌呤-磷酸核糖基转移酶缺乏症患者中发现较高的NAD+水平和正常或较低的NADH/NAD+比值,而一名磷酸核糖焦磷酸合成酶活性过高的患者除了先前发现的低NAD+水平外,还表现出NADH水平降低。