Çetin İhsan, Tezdiğ İhsan, Tarakçioğlu Mahmut Cem, Kadak Muhammed Tayyib, Demirel Ömer Faruk, Özer Ömer Faruk, Erdoğan Fırat, Doğangün Burak
Department of Nutrition and Dietetics, Batman University School of Health, Batman, Turkey.
Department of Chemistry, Batman University Institute of Science, Batman, Turkey.
Noro Psikiyatr Ars. 2017 Sep;54(3):267-271. doi: 10.5152/npa.2017.14873. Epub 2017 Apr 19.
The mechanism of ubiquitination-related abnormalities causing neural development problems is still unclear. We examined the association between autism and serum transactive response DNA-binding protein-43 (TDP-43) and ubiquitin c-terminal hydrolase-L1 (UCH-L1) levels, both of which are members of the ubiquitin-proteosome system.
We measured serum levels of TDP-43 and UCH-L1 in 24 children with autism and 24 healthy children. Childhood Autism Rating Scale (CARS) was used to assess symptom severity at admission.
The mean serum TDP-43 and UCH-L1 levels in children with autism spectrum disorder (ASD) were found to decrease compared to healthy controls (p<0.001, 506.21±780.97 ng/L and 1245.80±996.76 ng/L, respectively; 3.08±5.44 ng/mL and 8.64±6.67 ng/mL, respectively). A positive correlation between serum TDP-43 levels and UCH-L1 levels was found in the ASD group (r=0.947, n=24, p<0.001). The CARS score of children with ASD was 48.91 points (standard deviation [SD]: 5.82).
Low serum levels of UCH-L1 and TDP-43 may reflect disturbed ubiquitination in autism.
导致神经发育问题的泛素化相关异常机制仍不清楚。我们研究了自闭症与血清反式激活应答DNA结合蛋白43（TDP - 43）和泛素C末端水解酶L1（UCH - L1）水平之间的关联，这两者均为泛素 - 蛋白酶体系统的成员。
我们测量了24名自闭症儿童和24名健康儿童的血清TDP - 43和UCH - L1水平。采用儿童自闭症评定量表（CARS）评估入院时的症状严重程度。
发现自闭症谱系障碍（ASD）儿童的血清TDP - 43和UCH - L1平均水平低于健康对照组（p<0.001，分别为506.21±780.97 ng/L和1245.80±996.76 ng/L；分别为3.08±5.44 ng/mL和8.64±6.67 ng/mL）。在ASD组中发现血清TDP - 43水平与UCH - L1水平呈正相关（r = 0.947，n = 24，p<0.001）。ASD儿童的CARS评分为48.91分（标准差[SD]：5.82）。
血清UCH - L1和TDP - 43水平低可能反映自闭症中泛素化紊乱。
