HERVs expression in Autism Spectrum Disorders.
HERVs expression in Autism Spectrum Disorders.
复制标题
HERVS在自闭症谱系障碍中的表达。
DOI：
10.1371/journal.pone.0048831
复制
发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Sinibaldi-Vallebona P
中科院分区：
文献类型：
--
作者：
Balestrieri E;Arpino C;Matteucci C;Sorrentino R;Pica F;Alessandrelli R;Coniglio A;Curatolo P;Rezza G;Macciardi F;Garaci E;Gaudi S;Sinibaldi-Vallebona P
自闭症谱系障碍（ASD）是一种异质性神经发育障碍，由遗传、基因组和环境因素之间复杂的相互作用引起。在这里，我们研究了人类内源性逆转录病毒（HERVs）的表达，具有潜在的调节功能的非编码DNA元件，并测试了它们在自闭症中的可能意义。通过定性RT-PCR在ASD患者和健康对照（HC）的外周血单核细胞（PBMC）中评估了广泛涉及复杂疾病的来自四个HERV家族（E、H、K和W）的逆转录病毒mRNA的存在。我们还通过定量实时PCR分析了ASD组和HC组在取样时和培养物中刺激后PBMC中HERV-H、HERV-W和HERV-K家族的env序列的表达。使用统计学方法评价组间差异。与HC相比，ASD患者中HERV-H和HERV-W阳性样本的百分比较高，而两组中HERV-K的代表性相似，HERV-E几乎不存在。定量评估显示，HERV-H和HERV-W在两组中差异表达，与健康对照相比，在ASD的PBMC中，HERV-H表达更丰富，相反，HERV-W具有更低的丰度。与HC不同，ASD的PMBC在培养物中刺激后也显示出上调HERV-H表达的可能性增加。此外，我们报告了ASD患者中HERV-H的表达水平与年龄之间的负相关性，并且在交流和运动心理教育概况-3中具有严重评分的ASD患者中具有统计学显著性较高的表达。与HC相比，特定的HERV家族在ASD患者中具有独特的表达谱。我们建议，HERV-H的表达进行探讨，在更大的样本的个人与自闭症谱系，以确定其效用作为一种新的生物学特征，这种复杂的疾病。
Autistic Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, resulting from complex interactions among genetic, genomic and environmental factors. Here we have studied the expression of Human Endogenous Retroviruses (HERVs), non-coding DNA elements with potential regulatory functions, and have tested their possible implication in autism. The presence of retroviral mRNAs from four HERV families (E, H, K and W), widely implicated in complex diseases, was evaluated in peripheral blood mononuclear cells (PBMCs) from ASD patients and healthy controls (HCs) by qualitative RT-PCR. We also analyzed the expression of the env sequence from HERV-H, HERV-W and HERV-K families in PBMCs at the time of sampling and after stimulation in culture, in both ASD and HC groups, by quantitative Real-time PCR. Differences between groups were evaluated using statistical methods. The percentage of HERV-H and HERV-W positive samples was higher among ASD patients compared to HCs, while HERV-K was similarly represented and HERV-E virtually absent in both groups. The quantitative evaluation shows that HERV-H and HERV-W are differentially expressed in the two groups, with HERV-H being more abundantly expressed and, conversely, HERV-W, having lower abundance, in PBMCs from ASDs compared to healthy controls. PMBCs from ASDs also showed an increased potential to up-regulate HERV-H expression upon stimulation in culture, unlike HCs. Furthermore we report a negative correlation between expression levels of HERV-H and age among ASD patients and a statistically significant higher expression in ASD patients with Severe score in Communication and Motor Psychoeducational Profile-3. Specific HERV families have a distinctive expression profile in ASD patients compared to HCs. We propose that HERV-H expression be explored in larger samples of individuals with autism spectrum in order to determine its utility as a novel biological trait of this complex disorder.
登录
查看更多内容
影响因子：
4
作者：
Bill, Brent R.;Geschwind, Daniel H.
通讯作者：
Geschwind, Daniel H.
影响因子：
3.1
作者：
Forsman, A;Yun, ZH;Blomberg, J
通讯作者：
Blomberg, J
影响因子：
3.5
作者：
Ben-David, Eyal;Granot-Hershkovitz, Einat;Shifman, Sagiv
通讯作者：
Shifman, Sagiv
影响因子：
30.8
作者：
Faulkner, Geoffrey J.;Kimura, Yasumasa;Carninci, Piero
通讯作者：
Carninci, Piero
影响因子：
5.4
作者：
Frank, O;Giehl, M;Seifarth, W
通讯作者：
Seifarth, W