Wright C, Shin J H, Rajpurohit A, Deep-Soboslay A, Collado-Torres L, Brandon N J, Hyde T M, Kleinman J E, Jaffe A E, Cross A J, Weinberger D R
Lieber Institute for Brain Development, Clinical Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA.
AstraZeneca Postdoc Program, Innovative Medicines and Early Development, Waltham, MA, USA.
Transl Psychiatry. 2017 May 9;7(5):e1126. doi: 10.1038/tp.2017.87.
The histaminergic system (HS) has a critical role in cognition, sleep and other behaviors. Although not well studied in autism spectrum disorder (ASD), the HS is implicated in many neurological disorders, some of which share comorbidity with ASD, including Tourette syndrome (TS). Preliminary studies suggest that antagonism of histamine receptors 1-3 reduces symptoms and specific behaviors in ASD patients and relevant animal models. In addition, the HS mediates neuroinflammation, which may be heightened in ASD. Together, this suggests that the HS may also be altered in ASD. Using RNA sequencing (RNA-seq), we investigated genome-wide expression, as well as a focused gene set analysis of key HS genes (HDC, HNMT, HRH1, HRH2, HRH3 and HRH4) in postmortem dorsolateral prefrontal cortex (DLPFC) initially in 13 subjects with ASD and 39 matched controls. At the genome level, eight transcripts were differentially expressed (false discovery rate <0.05), six of which were small nucleolar RNAs (snoRNAs). There was no significant diagnosis effect on any of the individual HS genes but expression of the gene set of HNMT, HRH1, HRH2 and HRH3 was significantly altered. Curated HS gene sets were also significantly differentially expressed. Differential expression analysis of these gene sets in an independent RNA-seq ASD data set from DLPFC of 47 additional subjects confirmed these findings. Understanding the physiological relevance of an altered HS may suggest new therapeutic options for the treatment of ASD.
组胺能系统(HS)在认知、睡眠及其他行为中起关键作用。尽管在自闭症谱系障碍(ASD)中的研究尚不充分,但HS与许多神经疾病有关,其中一些与ASD存在共病情况,包括图雷特综合征(TS)。初步研究表明,组胺受体1 - 3的拮抗剂可减轻ASD患者及相关动物模型的症状和特定行为。此外,HS介导神经炎症,而在ASD中这种炎症可能会加剧。综合来看,这表明HS在ASD中也可能发生改变。我们使用RNA测序(RNA-seq),首先对13名ASD患者和39名匹配对照的死后背外侧前额叶皮质(DLPFC)进行全基因组表达研究,以及对关键HS基因(HDC、HNMT、HRH1、HRH2、HRH3和HRH4)进行重点基因集分析。在基因组水平上有8个转录本差异表达(错误发现率<0.05),其中6个是小核仁RNA(snoRNAs)。对任何单个HS基因均无显著的诊断效应,但HNMT、HRH1、HRH2和HRH3的基因集表达有显著改变。经过整理的HS基因集也有显著差异表达。在另外47名受试者的DLPFC独立RNA-seq ASD数据集中对这些基因集进行差异表达分析,证实了这些发现。了解HS改变的生理相关性可能为ASD的治疗提供新的治疗选择。