脂肪酸代谢酶的表达异常对孤独症的诊断意义

基础医学与临床 ›› 2020, Vol. 40 ›› Issue (4): 479-482.

脂肪酸代谢酶的表达异常对孤独症的诊断意义

陈建玲^1,3, 傅迎美², 禹顺英², 陈静¹, 杜亚松^1*

1.上海交通大学医学院附属精神卫生中心儿少科,上海 200030;
2.上海交通大学医学院附属精神卫生中心上海市重性精神病重点实验室,上海 200030;
3.纽约州立基础研究院神经生化研究室, 美国纽约 10314

收稿日期:2019-10-09 修回日期:2020-01-03 出版日期:2020-04-05 发布日期:2020-04-06
通讯作者: *yasongdu@yahoo.com.cn
基金资助:
国家重点研发计划(2017YFC1309903);上海市卫生计生委智慧医疗专项研究项目(2018ZHYL0210)

Significance of abnormal expression of fatty acid metabolic enzymes in the diagnosis of autism

CHEN Jian-ling^1,3, FU Ying-mei², YU Shun-ying², CHEN Jing¹, DU Ya-song^1*

1. Department of Child & Adolescent Psychiatry;
2. Department of Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China;
3. Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York 10314,the United States

Received:2019-10-09 Revised:2020-01-03 Online:2020-04-05 Published:2020-04-06
Contact: *yasongdu@yahoo.com.cn

摘要/Abstract

摘要： 目的探讨脂肪酸代谢酶的表达水平对孤独症的诊断意义。方法用蛋白质印迹法测定国外孤独症儿童的新鲜冰冻小脑组织中脂肪酸合酶(FASN)、乙酰辅酶A羧化酶(ACC)、乙酰辅酶A合成酶1(AceCS1)和长链脂酰辅酶A合成酶1(ACSL1)蛋白质含量;用酶联免疫吸附实验检测国内孤独症儿童外周血中FASN、ACC、AceCS1和ACSL1的含量。结果孤独症小脑组织及外周血中ACC和FASN的水平均高于对照组(P＜0.05或P＜0.01)。孤独症小脑组织及外周血中FASN、ACC、ACSL1及AceCS1的表达均与孤独症严重程度呈显著正相关(P＜0.01)。结论儿童孤独症症状的严重程度与脂肪酸代谢酶系的表达变化相关,脂肪酸代谢酶的表达异常可能是诊断儿童孤独症的生物标志物之一。

关键词: 孤独症, 脂肪酸, 小脑, 脂肪酸合酶, 乙酰辅酶A羧化酶

Abstract: Objective To investigate the significance of expression level of fatty acid metabolic enzymes in the diagnosis of autism. Methods The protein content of fatty acid synthase (FASN), acetyl-CoA carboxylase (ACC), acetyl-CoA synthase 1 (AceCS1) and long chain acyl-CoA synthase 1 (ACSL1) in freshly frozen cerebellum tissues of autistic children were determined by Western blot. The levels of FASN, ACC, AceCS1 and ACSL1 in the peripheral blood of autistic children in China were detected by enzyme-linked immunosorbent assay (ELISA). Results The levels of ACC and FASN in cerebellum and peripheral blood of autistic patients were higher than that of control groups (P＜0.05 or P＜0.01). The expressions of FASN, ACC, ACSL1 and AceCS1 in cerebellum tissue and peripheral blood of patients with autism were positively correlated with the severity of autism (all P＜0.01). Conclusions The severity of autistic symptoms in children is related to the expression changes of fatty acid metabolic enzymes, and the abnormal expression of fatty acid metabolic enzymes may be a group of biomarkers for the diagnosis of autism in children.

Key words: autism, fatty acid, cerebellum, fatty acid synthase, acetyl coenzyme A carboxylase

中图分类号:

R749.94

陈建玲, 傅迎美, 禹顺英, 陈静, 杜亚松. 脂肪酸代谢酶的表达异常对孤独症的诊断意义[J]. 基础医学与临床, 2020, 40(4): 479-482.

CHEN Jian-ling, FU Ying-mei, YU Shun-ying, CHEN Jing, DU Ya-song. Significance of abnormal expression of fatty acid metabolic enzymes in the diagnosis of autism[J]. Basic & Clinical Medicine, 2020, 40(4): 479-482.

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