Human blood analysis reveals differences in gene expression of catecholamine-regulated protein 40 (CRP40) in schizophrenia

Groleau, Sarah E.; Lubarda, Jovana; Thomas, Nancy; Ferro, Mark A.; Pristupa, Zdenek B.; Mishra, Ram K.; Gabriele, Joseph

doi:10.1016/j.schres.2012.10.034

Cited by 2 publications

(3 citation statements)

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“…The majority of studies examining the role of the alternative splicing of exons in the pathogenesis of psychiatric pathologies have been carried out on brain tissue (postmortem) [8]. However, dysregulation of the peripheral monoamine system components including the decrease in mRNA level of HTR2A in PBL independent from brain biomarkers is associated with schizophrenia [29,30]. Moreover, Oldmeadow et al demonstrated contribution of a splicing mechanism to the variation in psychiatric disorder risk and the differential expression of the various transcript isoforms between the blood and the brain tissue [31].…”

Section: Discussionmentioning

confidence: 99%

“…Despite of the numerous studies, the role of the genetic HTR2A variability in health and disease remains uncertain. As the peripheral blood lymphocytes (PBL) express the receptors of biogenic amines and are involved in the peripheral link of schizophrenia pathogenesis as well as being susceptible to systemic actions of antipsychotics, they are currently considered as an adequate tool for monitoring antipsychotic pharmacotherapy [27,28,29].…”

Section: Introductionmentioning

confidence: 99%

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Aberrant alternative splicing of HTR2A exon II in peripheral blood lymphocytes of drug-naïve schizophrenic patients

Grunina

Belinskaia

Zhuravlev

et al. 2020

Heliyon

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The aim of the study was to characterize the pattern of transcript isoforms of HTR2A exon II in lymphocytes of the blood as peripheral biomarkers of schizophrenia development and the effectiveness of antipsychotic therapy. We primarily observed an increase in mRNA levels and elevation of alternative variants in a sample of drug-naïve schizophrenic patients compared to the control group. There was no association of the expression level of HTR2A transcript isoforms with the effectiveness of the antipsychotic therapy. Antipsychotic-induced akathisia was associated with a significant reduction in the mRNA levels of the studied isoforms. In summary, our results suggest that levels of HTR2A exon II transcript isoforms are upregulated in patients with schizophrenia, but at the same time, elevated expression level of the studied HTR2A transcripts is associated with fewer side effects of the therapy.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aberrant alternative splicing of HTR2A exon II in peripheral blood lymphocytes of drug-naïve schizophrenic patients

Grunina

Belinskaia

Zhuravlev

et al. 2020

Heliyon

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“…In one study, authors found that CRP40/mortalin-2 mRNA was reduced in schizophrenia at first episode and in chronic stage, possibly reflecting increased cell stress or protein damage 7 . Heat shock proteins 8 are stimulated by protein denaturation which can occur in thermal stress, oxidative stress, hypoxia, mitochondrial collapse etc.…”

Section: Neurodegenerationmentioning

confidence: 99%

Schizophrenia: neuroinflammation, neurodegeneration or neurodevelopment? A genetic overview

Polho¹,

Paula

2017

Rev. Med. (São Paulo)

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Schizophrenia is a devastating mental illness and its etiology is still largely unknown. Several gene mapping studies suggest that schizophrenia is a complex disorder, with a cumulative impact of variable genetic effects coupled with environmental factors. There is evidence that schizophrenia could be a neurodegenerative, neuroinflammatory or neurodevelopmental disorder. Neuropsychological data indicate neurocognitive functions are relatively stable over time after illness onset, whereas morphological data indicate a degenerative process; potential roles of neuroinflammation in the etiology of psychiatric diseases including schizophrenia have also been suggested. Recent research indicates genetic overlap between schizophrenia and syndromes in which psychopathology manifests in childhood and that are often grouped together as 'neurodevelopmental disorders'. These findings challenge the etiological basis of current diagnostic categories and, together with evidence for frequent comorbidity, suggest that we should view the functional psychoses as members of a group that result in part from a combination of genetic and environmental effects on brain development and that are associated with specific and general impairments of cognitive function. The objective was to perform a systematic literature review of articles on genetics of schizophrenia relating to neurodegeneration, neuroinflammation and neurodevelopment. After proper filter, we included 40 studies and reviewed each finding and its relevance to the hypotheses. We can conclude that the evidence points to schizophrenia as a neurodevelopmental disease with the direct presence of factors related to neuroinflammation and neurodegeneration.Keywords: Schizophrenia/genetics; Neurodevelopmental disorders/ genetics; Pantothenate kinase-associated neurodegeneration/ genetics; Neurogenetic inflammation/genetics; Genetics.RESUMO: Esquizofrenia é uma doença mental debilitante e sua etiologia é, em sua maior parte, desconhecida. Alguns estudos de mapeamento genético sugerem que esquizofrenia é uma doença complexa, com impacto acumulativo de fatores genéticos variáveis associados a fatores ambientais. Há evidência de que a esquizofrenia poderia ser uma doença neurodegenerativa, neuroinflamatória ou do neurodesenvolvimento. Dados neuropsicológicos indicam que funções cognitivas são relativamente estáveis no decorrer do tempo após o início da doença, enquanto dados morfológicos indicam processos degenerativos; papéis importantes da neuroinflamação na etiologia de doenças psiquiátricas, incluindo esquizofrenia, também foram sugeridos. Pesquisas recentes indicam sobreposição entre esquizofrenia e síndromes cuja fisiopatologia se manifesta na infância e são em geral agrupadas como "doenças do neurodesenvolvimento". Estes achados desafiam a base etiológica das categorias atuais de diagnóstico e, juntamente com a evidência de comorbidade frequente, sugerem que devemos ver as psicoses como membros do grupo que resulta em parte da combinação de efeitos genéticos e ambientai...

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Human blood analysis reveals differences in gene expression of catecholamine-regulated protein 40 (CRP40) in schizophrenia

Cited by 2 publications

References 32 publications

Aberrant alternative splicing of HTR2A exon II in peripheral blood lymphocytes of drug-naïve schizophrenic patients

Aberrant alternative splicing of HTR2A exon II in peripheral blood lymphocytes of drug-naïve schizophrenic patients

Schizophrenia: neuroinflammation, neurodegeneration or neurodevelopment? A genetic overview

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