Human endogenous retroviruses and ADHD

Balestrieri, Emanuela; Pitzianti, Mariabernarda; Matteucci, Claudia; D’Agati, Elisa; Sorrentino, R; Baratta, Antonia; Rosa, Caterina; Zenobi, Rossella; Curatolo, Paolo; Garaci, Enrico; Vallebona, P Sinibaldi; Pasini, Augusto

doi:10.3109/15622975.2013.862345

Cited by 42 publications

(31 citation statements)

References 36 publications

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“…Subsequent quantification showed that HERV-H and HERV-W were, respectively, more and less abundantly expressed in ADS patients [ 162 ]. Similarly, the HERV-H transcript level in ADHD patients PBMC was significantly higher, while no differences were found in HERV-W expression [ 163 ].…”

Section: Herv-w Expression In Neurological and Neuropsychiatric DImentioning

confidence: 99%

Type W Human Endogenous Retrovirus (HERV-W) Integrations and Their Mobilization by L1 Machinery: Contribution to the Human Transcriptome and Impact on the Host Physiopathology

Grandi

2017

Viruses

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Human Endogenous Retroviruses (HERVs) are ancient infection relics constituting ~8% of our DNA. While HERVs’ genomic characterization is still ongoing, impressive amounts of data have been obtained regarding their general expression across tissues. Among HERVs, one of the most studied is the W group, which is the sole HERV group specifically mobilized by the long interspersed element-1 (LINE-1) machinery, providing a source of novel insertions by retrotransposition of HERV-W processed pseudogenes, and comprising a member encoding a functional envelope protein coopted for human placentation. The HERV-W group has been intensively investigated for its putative role in several diseases, such as cancer, inflammation, and autoimmunity. Despite major interest in the link between HERV-W expression and human pathogenesis, no conclusive correlation has been demonstrated so far. In general, (i) the absence of a proper identification of the specific HERV-W sequences expressed in a given condition; and (ii) the lack of studies attempting to connect the various observations in the same experimental conditions are the major problems preventing the definitive assessment of the HERV-W impact on human physiopathology. In this review, we summarize the current knowledge on the HERV-W group presence within the human genome and its expression in physiological tissues as well as in the main pathological contexts.

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Section: Herv-w Expression In Neurological and Neuropsychiatric DImentioning

confidence: 99%

Type W Human Endogenous Retrovirus (HERV-W) Integrations and Their Mobilization by L1 Machinery: Contribution to the Human Transcriptome and Impact on the Host Physiopathology

Grandi

2017

Viruses

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“…Although most HERVs are inactivated or silenced by mutations or epigenetic modifications, they have served important functions in human evolution and speciation, and can potentially cause or contribute to diseases [ 2 , 3 ]. Mounting evidence has demonstrated that HERVs may be involved in the pathological processes of some neurological and psychiatric disorders, such as multiple sclerosis, schizophrenia, and bipolar disorder [ 4 , 5 ], and cancers such as melanoma, breast, prostate, and leukemia [ 6 , 7 ]. Thus, investigating HERVs is important for understanding the etiological mechanisms of certain diseases.…”

Section: Introductionmentioning

confidence: 99%

Knock-Down of Endogenous Bornavirus-Like Nucleoprotein 1 Inhibits Cell Growth and Induces Apoptosis in Human Oligodendroglia Cells

Sun

Zhu

et al. 2016

IJMS

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Endogenous bornavirus-like nucleoprotein elements (EBLNs) have been discovered in the genomes of various animals including humans, whose functions have been seldom studied. To explore the biological functions of human EBLNs, we constructed a lentiviral vector expressing a short-hairpin RNA against human EBLN1, which successfully inhibited EBLN1 expression by above 80% in infected human oligodendroglia cells (OL cells). We found that EBLN1 silencing suppressed cell proliferation, induced G2/M phase arrest, and promoted apoptosis in OL cells. Gene expression profiling demonstrated that 1067 genes were up-regulated, and 2004 were down-regulated after EBLN1 silencing. The top 10 most upregulated genes were PI3, RND3, BLZF1, SOD2, EPGN, SBSN, INSIG1, OSMR, CREB3L2, and MSMO1, and the top 10 most-downregulated genes were KRTAP2-4, FLRT2, DIDO1, FAT4, ESCO2, ZNF804A, SUV420H1, ZC3H4, YAE1D1, and NCOA5. Pathway analysis revealed that these differentially expressed genes were mainly involved in pathways related to the cell cycle, the mitogen-activated protein kinase pathway, p53 signaling, and apoptosis. The gene expression profiles were validated by using quantitative reverse transcription polymerase chain reaction (RT-PCR) for detecting these 20 most-changed genes. Three genes closely related to glioma, RND3, OSMR, and CREB3L2, were significantly upregulated and might be the key factors in EBLN1 regulating the proliferation and apoptosis of OL cells. This study provides evidence that EBLN1 plays a key role in regulating cell life and death, thereby opening several avenues of investigation regarding EBLN1 in the future.

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“…Perron and colleagues found that a higher level of HERV‐W expression in schizophrenia was associated with a lower copy‐number of HERV‐W elements [Perron et al, ]. Similar findings on HERV's transcriptional activity were also reported for other neuropsychiatric disorders such as bipolar disorder [Frank et al, ; Weis et al, ; Perron et al, ], major depression [Weis et al, ], autism [Balestrieri et al, ], and ADHD [Balestrieri et al, ]. While most of these studies focused on the overall detection of qualitative and quantitative profiles of HERVs transcriptional activity, two reports specifically addressed the effect of abnormal transcriptional profiles on gene activity.…”

Section: The Impact Of Tes On the Human Genome And The Central Nervoumentioning

confidence: 78%

Transposable elements and psychiatric disorders

Guffanti

Gaudi²,

Fallon

et al. 2014

American J of Med Genetics Pt B

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Transposable Elements (TEs) or transposons are low-complexity elements (e.g., LINEs, SINEs, SVAs, and HERVs) that make up to two-thirds of the human genome. There is mounting evidence that TEs play an essential role in genomic architecture and regulation related to both normal function and disease states. Recently, the identification of active TEs in several different human brain regions suggests that TEs play a role in normal brain development and adult physiology and quite possibly in psychiatric disorders. TEs have been implicated in hemophilia, neurofibromatosis, and cancer. With the advent of next-generation whole-genome sequencing approaches, our understanding of the relationship between TEs and psychiatric disorders will greatly improve. We will review the biology of TEs and early evidence for TE involvement in psychiatric disorders.

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Human endogenous retroviruses and ADHD

Cited by 42 publications

References 36 publications

Type W Human Endogenous Retrovirus (HERV-W) Integrations and Their Mobilization by L1 Machinery: Contribution to the Human Transcriptome and Impact on the Host Physiopathology

Type W Human Endogenous Retrovirus (HERV-W) Integrations and Their Mobilization by L1 Machinery: Contribution to the Human Transcriptome and Impact on the Host Physiopathology

Knock-Down of Endogenous Bornavirus-Like Nucleoprotein 1 Inhibits Cell Growth and Induces Apoptosis in Human Oligodendroglia Cells

Transposable elements and psychiatric disorders

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