Goodman H O, Connolly B M, McLean W, Resnick M
Clin Chem. 1980 Mar;26(3):414-9.
Previous studies of plasma taurine concentrations in epileptics have yielded equivocal results. We measured plasma and urinary taurine in 41 epileptic and 68 control subjects and found plasma concentrations among epileptics to be comparable in general to those of controls, but that two or three classes of plasma taurine concentrations, possibly genetically regulated, occur in both epileptic and control subjects. Our previous studies and data from the present study on taurine excretion revealed three excretion classes under genetic control. The principal finding is that epileptics include disproportionate numbers of low excretors (high reabsorbers), who are presumptive homozygotes for the allele effecting higher reabsorption. If confirmed, these findings suggest that the transport of taurine, rather than absolute taurine concentration, may explain the efficacy of taurine administration in some epileptics but not in others. The locus involved may be one component in the polygenic diathesis to the idiopathic epilepsies.
以往对癫痫患者血浆牛磺酸浓度的研究结果并不明确。我们测量了41名癫痫患者和68名对照者的血浆和尿液中的牛磺酸，发现癫痫患者的血浆浓度总体上与对照组相当，但癫痫患者和对照者中都存在两到三类可能受基因调控的血浆牛磺酸浓度。我们之前的研究以及本研究中关于牛磺酸排泄的数据显示，在基因控制下存在三种排泄类型。主要发现是，癫痫患者中低排泄者（高重吸收者）的比例过高，这些人可能是影响更高重吸收的等位基因的纯合子。如果得到证实，这些发现表明，牛磺酸的转运而非牛磺酸的绝对浓度，可能解释了牛磺酸给药对一些癫痫患者有效而对另一些患者无效的原因。所涉及的基因座可能是特发性癫痫多基因素质的一个组成部分。
