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相关概念视频

Schizophrenia01:17

Schizophrenia

847
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

Biological Causes of Schizophrenia

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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.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
548
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

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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

Negative and Cognitive Symptoms of Schizophrenia

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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.
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
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Positive Symptoms Schizophrenia: Hallucinations and Delusions01:26

Positive Symptoms Schizophrenia: Hallucinations and Delusions

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Schizophrenia is a complex psychiatric disorder characterized by a range of symptoms that significantly impact cognition, behavior, and emotional regulation. Among these, the positive symptoms stand out as they involve the addition or exaggeration of normal mental functions, deviating markedly from typical behavior and perception. Hallucinations and delusions are prominent positive symptoms, each profoundly affecting the individual's experience of reality.
Hallucinations
Hallucinations in...
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相关实验视频

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Measurement of Fronto-limbic Activity Using an Emotional Oddball Task in Children with Familial High Risk for Schizophrenia
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在1p36.23处的功能变异通过调节RERE给精神分裂症带来风险.

Yixing Liu1,2, Junyang Wang3, Hong Yang4

  • 1Department of Psychosomatics and Psychiatry, Zhongda Hospital, State Key Laboratory of Digital Medical Engineering, School of Medicine, Advanced Institute for Life and Health, Jiangsu Provincial Key Laboratory of Brain Science and Medicine, Southeast University, Nanjing, China.

Nature communications
|January 24, 2026
PubMed
概括

在1p36.23位点的两个遗传变异通过上调RERE基因,增加了精神分裂症的风险. 这种基因影响神经发育和突触功能,导致疾病.

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科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 遗传学 是一个
  • 精神病学是一个精神病学.

背景情况:

  • 全基因组关联研究 (GWAS) 表明1p36.23染色体区域与精神分裂症易感性有关.
  • 驱动这种关联的特定遗传变异和潜在的生物机制仍然不清楚.

研究的目的:

  • 为了确定1p36.23精神分裂症风险位置的功能遗传变异.
  • 阐明这些变异对精神分裂症病原体有所贡献的分子机制.

主要方法:

  • 在RERE基因内部的功能变异 (rs159961,rs301792) 的识别和表征.
  • 对异位基因特异性增强剂活性和转录因子结合 (REST,POLR2A) 的评估.
  • 在人脑组织中分析RERE表达水平及其对神经发生,树突形态和突触传递 in vitro 的功能影响.

主要成果:

  • 两种变异,rs159961和rs301792,表现出基因特异性增强剂活性,通过改变转录因子结合来增加RERE表达.
  • 在精神分裂症患者的大脑中观察到较高的RERE水平.
  • RERE过度表达对神经发生,树突复杂性和激发性突触功能产生了负面影响,部分是通过调节Grin2a基因.

结论:

  • 功能变异rs159961和rs301792通过增加RERE表达而增加精神分裂症风险.
  • 上调的RERE破坏神经元发育和突触功能,提供了与精神分裂症的机械联系.
  • 这项研究强调RERE是精神分裂症病因中的关键基因,受常见遗传变异的影响.