Departments of Developmental Neurobiology, NY State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Rd, Staten Island, NY, 10314, USA.
Department of Psychology, NY State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, 10314, USA.
Adv Exp Med Biol. 2017;975 Pt 1:3-16. doi: 10.1007/978-94-024-1079-2_1.
Taurine is a sulfur-containing amino acid which is not incorporated into protein. However, taurine has various critical physiological functions including development of the eye and brain, reproduction, osmoregulation, and immune functions including anti-inflammatory as well as anti-oxidant activity. The causes of autistic spectrum disorder (ASD) are not clear but a high heritability implicates an important role for genetic factors. Reports also implicate oxidative stress and inflammation in the etiology of ASD. Thus, taurine, a well-known antioxidant and regulator of inflammation, was investigated here using the sera from both girls and boys with ASD as well as their siblings and parents. Previous reports regarding taurine serum concentrations in ASD from various laboratories have been controversial. To address the potential role of taurine in ASD, we collected sera from 66 children with ASD (males: 45; females: 21, age 1.5-11.5 years, average age 5.2 ± 1.6) as well as their unaffected siblings (brothers: 24; sisters: 32, age 1.5-17 years, average age 7.0 ± 2.0) as controls of the children with ASD along with parents (fathers: 49; mothers: 54, age 28-45 years). The sera from normal adult controls (males: 47; females: 51, age 28-48 years) were used as controls for the parents. Taurine concentrations in all sera samples were measured using high performance liquid chromatography (HPLC) using a phenylisothiocyanate labeling technique. Taurine concentrations from female and male children with ASD were 123.8 ± 15.2 and 145.8 ± 8.1 μM, respectively, and those from their unaffected brothers and sisters were 142.6 ± 10.4 and 150.8 ± 8.4 μM, respectively. There was no significant difference in taurine concentration between autistic children and their unaffected siblings. Taurine concentrations in children with ASD were also not significantly different from their parents (mothers: 139.6 ± 7.7 μM, fathers: 147.4 ± 7.5 μM). No significant difference was observed between adult controls and parents of ASD children (control females: 164.8 ± 4.8 μM, control males: 163.0 ± 7.0 μM). However, 21 out of 66 children with ASD had low taurine concentrations (<106 μM). Since taurine has anti-oxidant activity, children with ASD with low taurine concentrations will be examined for abnormal mitochondrial function. Our data imply that taurine may be a valid biomarker in a subgroup of ASD.
牛磺酸是一种含硫氨基酸，不会掺入蛋白质中。然而，牛磺酸具有各种关键的生理功能，包括眼睛和大脑的发育、生殖、渗透压调节以及免疫功能，包括抗炎和抗氧化活性。自闭症谱系障碍（ASD）的病因尚不清楚，但高遗传性暗示遗传因素的重要作用。报告还表明氧化应激和炎症在 ASD 的发病机制中起作用。因此，在这里使用来自 ASD 女孩和男孩以及他们的兄弟姐妹和父母的血清研究了牛磺酸，这是一种众所周知的抗氧化剂和炎症调节剂。来自不同实验室的关于 ASD 中牛磺酸血清浓度的先前报告存在争议。为了解决牛磺酸在 ASD 中的潜在作用，我们收集了 66 名 ASD 儿童（男性：45 名；女性：21 名，年龄 1.5-11.5 岁，平均年龄 5.2±1.6 岁）以及他们未受影响的兄弟姐妹（男性：24 名；女性：32 名，年龄 1.5-17 岁，平均年龄 7.0±2.0 岁）以及父母（父亲：49 名；母亲：54 名，年龄 28-45 岁）的血清作为 ASD 儿童的对照。正常成年对照（男性：47 名；女性：51 名，年龄 28-48 岁）的血清被用作父母的对照。使用苯基异硫氰酸酯标记技术，使用高效液相色谱法（HPLC）测量所有血清样本中的牛磺酸浓度。患有 ASD 的女性和男性儿童的牛磺酸浓度分别为 123.8±15.2 和 145.8±8.1μM，而未受影响的兄弟姐妹的浓度分别为 142.6±10.4 和 150.8±8.4μM。自闭症儿童与其未受影响的兄弟姐妹之间的牛磺酸浓度没有显著差异。自闭症儿童的牛磺酸浓度也与父母无显著差异（母亲：139.6±7.7μM，父亲：147.4±7.5μM）。与 ASD 儿童的父母相比，成人对照组之间没有观察到显著差异（对照女性：164.8±4.8μM，对照男性：163.0±7.0μM）。然而，66 名自闭症儿童中有 21 名的牛磺酸浓度较低（<106μM）。由于牛磺酸具有抗氧化活性，因此将对自闭症儿童中牛磺酸浓度较低的儿童进行线粒体功能异常的检查。我们的数据表明，牛磺酸可能是自闭症亚组的有效生物标志物。
