Comings D E
Department of Medical Genetics, City of Hope Medical Center, Duarte, California 91010.
Am J Med Genet. 1990 Aug;36(4):418-30. doi: 10.1002/ajmg.1320360410.
Blood serotonin and tryptophan levels were studied in 1,440 individuals. These included patients with Tourette syndrome (TS), attention deficit hyperactivity disorder (ADHA), or ADHD with a family history of TS (ADHD 2 degrees TS); relatives (parents, sibs) of these patients; other patients with TS-like disorders; and controls. There were significant decreases in the serotonin/platelet ratio (P = 0.0001) and in tryptophan (P less than 0.0001) in unmedicated patients with TS. Parents of TS patients showed a comparable, significant decrease in serotonin/platelet ratio (P less than 0.0001) and in tryptophan (P less than 0.0001), and there was no difference between parents with and without symptoms. This suggested that these were trait markers for the Gts gene and agrees with the proposal that TS patients are homozygous for Gts gene and that both parents are Gts gene carriers. Although there was no decrease in the serotonin/platelet ratio in ADHD patients, tryptophan levels were significantly decreased and there was a significant decrease in both the serotonin/platelet ratio and in tryptophan in the parents of patients with ADHD including those without a family history of TS. This is consistent with a close link between TS and ADHD. The basic defect may be a dysregulation of serotonin metabolism. The low blood serotonin and tryptophan levels in TS are consistent with the wide range of behavioral disorders seen in TS and suggest tryptophan oxygenase as a possible candidate gene.
对1440名个体的血液血清素和色氨酸水平进行了研究。这些个体包括患有图雷特综合征（TS）、注意力缺陷多动障碍（ADHA）或有TS家族史的ADHD（ADHD 2度TS）患者；这些患者的亲属（父母、兄弟姐妹）；其他患有类似TS疾病的患者；以及对照组。未用药的TS患者的血清素/血小板比值（P = 0.0001）和色氨酸水平（P < 0.0001）显著降低。TS患者的父母血清素/血小板比值（P < 0.0001）和色氨酸水平（P < 0.0001）也有类似的显著降低，有症状和无症状的父母之间没有差异。这表明这些是Gts基因的特征性标志物，与TS患者是Gts基因纯合子且父母都是Gts基因携带者的提议一致。虽然ADHD患者的血清素/血小板比值没有降低，但色氨酸水平显著降低，包括那些没有TS家族史的ADHD患者的父母，其血清素/血小板比值和色氨酸水平都显著降低。这与TS和ADHD之间的密切联系是一致的。基本缺陷可能是血清素代谢失调。TS患者血液中低水平的血清素和色氨酸与TS中出现的广泛行为障碍相一致，并提示色氨酸加氧酶可能是一个候选基因。
