RESUMEN
Specific language impairment (SLI) is a psychiatric condition with a complex etiology and a substantial genetic basis that affects children's verbal communication abilities. In this study, we examined the expression of five different human endogenous retrovirus elements (HERVs) in a cohort of 25 children with SLI and 25 healthy children in the control group. Human endogenous retrovirus elements, a diverse group of repetitive DNA sequences, can potentially cause considerable genetic heterogeneity. They had been integrated in the genome of our ancestors throughout evolution and now consist of about 8.0% of the human genome. Several HERV loci are transcribed in various cell types. Their expression in peripheral blood and in the brain is altered in many neurological and psychiatric diseases. To date, HERV expression profiles have never been studied in patients with SLI. This study aimed to elucidate differentially regulated human endogenous retroelements in peripheral blood of children with SLI, in comparison with healthy controls, through quantitative reverse tran-scription-polymerase chain reaction (qRT-PCR) methodology. Our results show that two genes: HERV-K (HLM-2) gag and HERV-P env were expressed at lower levels in the blood samples from SLI children in comparison with those in the control group.
RESUMEN
Schizophrenia (SZ) is a chronic neuropsychiatric disorder characterized by affective, neuromorphological and cognitive impairment, deteriorated social functioning and psychosis with underlying molecular abnormalities, including gene expression changes. Observations have suggested that fasciculation and elongation protein ζ-1 (FEZ1) may be implicated in the pathogenesis of schizophrenia. Nevertheless, our current knowledge of the expression of FEZ1 in peripheral blood of schizophrenia patients remains unclear. The purpose of this study was to identify the characteristic gene expression patterns of FEZ1 in peripheral blood samples from schizophrenia patients. We performed quantitative reverse-transcriptase (qRT-PCR) analysis using peripheral blood from drug-free schizophrenia patients (n = 29) and age and gender-matched general population controls (n = 24). For the identification of FEZ1 gene expression patterns, we applied a comparative threshold cycle (CT) method. A statistically significant difference of FEZ1 mRNA level was revealed in schizophrenia subjects compared to healthy controls (p = 0.0034). To the best of our knowledge, this study is the first describing a down-regulation of FEZ1 gene expression in peripheral blood of patients with schizophrenia. Our results suggested a possible functional role of FEZ1 in the pathogenesis of schizophrenia and confirmed the utility of peripheral blood samples for molecular profiling of psychiatric disorders including schizophrenia. The current study describes FEZ1 gene expression changes in peripheral blood of patients with schizophrenia with significantly down-regulation of FEZ1 mRNA. Thus, our results provide support for a model of SZ pathogenesis that includes the effects of FEZ1 expression.