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Related Concept Videos

Schizophrenia01:17

Schizophrenia

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Schizophrenia, a term introduced by Swiss psychiatrist Eugen Bleuler in 1911, describes a severe psychological disorder marked by profound disruptions in attention, thought processes, language, emotion, and interpersonal relationships. The core feature of schizophrenia is psychosis — a state characterized by a fundamental detachment from reality. This disconnection manifests through distorted logic, impaired perception, and atypical behavior, severely affecting the lives of those...
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Biological Causes of Schizophrenia01:29

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Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
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Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
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Negative and Cognitive Symptoms of Schizophrenia01:30

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Negative symptoms of schizophrenia indicate a reduction or absence of typical behaviors and emotional responses found in healthy individuals, while positive symptoms reflect an excess or distortion of normal functioning.
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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Double hits in schizophrenia.

Jacob A S Vorstman1,2,3, Loes M Olde Loohuis4,

  • 1Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.

Human Molecular Genetics
|May 17, 2018
PubMed
Summary
This summary is machine-generated.

Schizophrenia genetics may involve copy number variants (CNVs) and single-nucleotide variations (SNVs). Deletions combined with SNVs showed a nearly 4-fold higher predicted harmful effect in schizophrenia patients, suggesting a role in disease etiology.

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Area of Science:

  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Schizophrenia is a complex psychiatric disorder with a significant genetic component.
  • The co-occurrence of genetic variants, such as copy number variants (CNVs) and single-nucleotide variations (SNVs), on different alleles is a potential mechanism contributing to disease risk.

Purpose of the Study:

  • To investigate the hypothesis that an increased burden of "double hit" genetic events, specifically deletions co-occurring with coding SNVs (CNV-SNVs), is associated with schizophrenia.
  • To assess the combined deleteriousness of these CNV-SNVs in patients with schizophrenia compared to controls.

Main Methods:

  • Combined CNV and coding variant data from 795 schizophrenia patients and 474 controls.
  • Utilized two algorithms for CNV detection to ensure reliability.
  • Identified CNV-SNVs and evaluated their combined predicted deleteriousness, focusing on deletions and duplications separately.
  • Employed permutation testing to estimate P-values.

Main Results:

  • Detected 105 CNV-SNVs in total, with 38 in deleted and 67 in duplicated genic sequences.
  • While the overall rate of CNV-SNVs did not differ significantly between cases and controls, the combined deleteriousness of CNV-SNVs in deleted sequences was nearly 4-fold higher in schizophrenia patients (nominal P=0.009).
  • No significant effect was observed for CNV-SNVs in duplicated sequences.

Conclusions:

  • Provides preliminary evidence that deletions co-occurring with functional variants (CNV-SNVs) may contribute to the genetic etiology of schizophrenia, albeit with a modest impact.
  • Suggests that the combined deleteriousness of these specific genetic configurations, particularly deletions, warrants further investigation.
  • Highlights the need for large-scale studies and advanced sequence-based analyses to confirm these findings and improve variant detection.