Hospital of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany.
World J Biol Psychiatry. 2011 Sep;12 Suppl 1:104-8. doi: 10.3109/15622975.2011.600297.
In absence of objective clinical characteristics the identification of peripheral biomarkers in neuropsychiatric disorders is highly relevant for the diagnostic process and an individualized therapy. We analyzed mRNA-expression of monoaminergic candidate genes (DRD4, DRD5, TPH1) in peripheral tissue of patients with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD), highly comorbid with ADHD, searching for possible molecular markers for these disorders.
mRNA was obtained from children and adolescents with ADHD (n = 51) and ASD (n = 26), diagnosed according to ICD-10 criteria, as well as healthy controls (n = 39). mRNA expression was determined via quantitative realtime PCR (qRT-PCR) from whole blood cells.
The concentrations of DRD4-mRNA in the whole blood were significantly lower in ADHD and ASD children (19 of 26 comorbid with ADHD) compared to healthy controls. ASD patients revealed a significantly decreased DRD5 mRNA expression in comparison to the two other groups.
Alterations in mRNA expression patterns provide further evidence for a relevant effect of the respective candidate genes in the pathophysiology of ADHD. Given their potential as biomarkers mRNA expression patterns may be useful tools in (differential-) diagnostic procedures of ADHD and ASD. Future studies may determine the sensitivity and specificity of these putative biomarkers in larger samples including further neuropsychiatric diagnoses.
在缺乏客观临床特征的情况下,识别神经精神疾病的外周生物标志物对于诊断过程和个体化治疗非常重要。我们分析了注意力缺陷多动障碍(ADHD)和自闭症谱系障碍(ASD)患者外周组织中单胺能候选基因(DRD4、DRD5、TPH1)的 mRNA 表达,这些疾病与 ADHD 高度共患,寻找这些疾病的可能分子标志物。
根据 ICD-10 标准,从 ADHD(n = 51)和 ASD(n = 26)的儿童和青少年以及健康对照组(n = 39)中获得 mRNA。通过定量实时 PCR(qRT-PCR)从全血细胞中确定 mRNA 表达。
与健康对照组相比,ADHD 和 ASD 儿童(共 ADHD 的 19 例)的全血中 DRD4-mRNA 浓度显着降低。与其他两组相比,ASD 患者的 DRD5 mRNA 表达显着降低。
mRNA 表达模式的改变为候选基因在 ADHD 病理生理学中的相关作用提供了进一步的证据。鉴于它们作为生物标志物的潜力,mRNA 表达模式可能是 ADHD 和 ASD (鉴别)诊断程序中的有用工具。未来的研究可能会确定这些假定生物标志物在包括进一步神经精神诊断在内的更大样本中的敏感性和特异性。