Although neurological soft signs are intrinsic to schizophrenia, their level varies with the clinical course. Thus, neurological soft signs may correspond to both genetic liability and the activity of the disease process and may be considered as potential predictors of outcome.
We previously reported on the differential presence of transcripts related to the human endogenous retrovirus (HERV)-W family in cerebrospinal fluid and plasma from patients with first-episode schizophrenia compared with control individuals. Whether this is a consequence of qualitative or quantitative differences in transcription of genomic regions harboring HERV-W elements is not known. The purpose of the present study was therefore to characterize the transcribed HERV-W elements in mononuclear cells obtained from 30 patients first hospitalized for schizophrenia-related psychosis and from 26 healthy control individuals. We observed elevated total levels of HERV-W gag (2.1-fold, P < 0.01) but not env transcripts in the cells of patients compared with controls. By using the melting temperatures of the amplicons as a proxy marker for sequence identity, no absolute qualitative differences was detected between the two groups. Mapping of the detected transcripts identified several intronic and intergenic HERV-W elements transcribed in the cells, including elements previously considered transcriptionally silent. Elementspecific assays revealed elevated levels of intronic transcripts containing HERV-W gag sequence from the putative gene PTD015 on chromosome 11q13.5 (1.6-fold, P < 0.05) in the patients compared with the controls. Thus, studies aiming to further understanding of complex human disease such as schizophrenia may need to be extended beyond the strictly protein-coding fraction of the transcriptome.
Our findings are in line with other in vivo morphometric studies on the CC in schizophrenia. The larger CC area in women may reflect general gender-related differences in CC size as described in healthy individuals.
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