دورية أكاديمية
HERVs expression in Autism Spectrum Disorders.
| العنوان: | HERVs expression in Autism Spectrum Disorders. |
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| المؤلفون: | Emanuela Balestrieri, Carla Arpino, Claudia Matteucci, Roberta Sorrentino, Francesca Pica, Riccardo Alessandrelli, Antonella Coniglio, Paolo Curatolo, Giovanni Rezza, Fabio Macciardi, Enrico Garaci, Simona Gaudi, Paola Sinibaldi-Vallebona |
| المصدر: | PLoS ONE, Vol 7, Iss 11, p e48831 (2012) |
| بيانات النشر: | Public Library of Science (PLoS), 2012. |
| سنة النشر: | 2012 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | BackgroundAutistic 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.MethodsThe 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.ResultsThe 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.ConclusionsSpecific 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1932-6203 |
| العلاقة: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23155411/pdf/?tool=EBITest; https://doaj.org/toc/1932-6203Test |
| DOI: | 10.1371/journal.pone.0048831 |
| الوصول الحر: | https://doaj.org/article/c2c2a92066e54a32a744daeb4ab894ecTest |
| رقم الانضمام: | edsdoj.2c2a92066e54a32a744daeb4ab894ec |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 19326203 |
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| DOI: | 10.1371/journal.pone.0048831 |