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Related Concept Videos

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Bipolar disorder is a chronic mental health condition marked by significant mood fluctuations, including episodes of mania and depression. Elevated energy levels, heightened mood or irritability, impulsive behavior, reduced sleep needs, rapid speech, racing thoughts, inflated self-esteem, and distractibility characterize mania. Individuals with bipolar disorder often alternate between depressive and manic states, with periods of emotional stability lasting an average of six months to a year.
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Dissociative Identity Disorder (DID), previously termed multiple personality disorder, is a complex psychological condition characterized by the presence of two or more distinct identities or personality states. Each identity exhibits unique patterns of behavior, voice, and mannerisms and may possess separate memories and emotional responses. The alternating control between identities can result in memory gaps and challenges in recalling daily activities, often exacerbating the individual's...
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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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Related Experiment Video

Updated: Feb 14, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal

C Salvoro1, S Bortoluzzi2, A Coppe2

  • 1Department of Biology, University of Padova, Padova, Italy.

Molecular Neurobiology
|February 8, 2018
PubMed
Summary

Rare genetic variants significantly contribute to schizophrenia and bipolar disorder risk. This study identified high-risk haplotypes linked to neuronal connectivity defects, confirming their role in these complex brain disorders.

Keywords:
bipolar disorderdevelopment of neuronal connectivityidentity-by-descentrare variantsschizophreniawhole-exome sequencing

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Area of Science:

  • Psychiatric Genetics
  • Neuroscience
  • Genomics

Background:

  • Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable psychiatric disorders with significant co-heritability.
  • While common genetic variants are implicated, rare, high-penetrance variants are increasingly recognized as important contributors.

Purpose of the Study:

  • To investigate the role of rare genetic variants in SCZ and BPD pathogenesis within a closed population cohort.
  • To identify high-risk haplotypes and associated genes contributing to disease risk.

Main Methods:

  • Utilized identity-by-descent (IBD) mapping combined with whole-exome sequencing (WES) in a familial cohort of 230 subjects.
  • IBD analysis identified high-risk haplotypes (IBDrisk) shared among patients.
  • WES identified variants within these IBDrisk haplotypes.

Main Results:

  • Identified 444 non-synonymous and 137 disruptive variants within IBDrisk haplotypes.
  • Found significant enrichment of IBDrisk variants in genes related to post-synaptic density (PSD) proteins, voltage-gated calcium channels (VGCCs), and fragile X mental retardation protein (FMRP) targets.
  • IBDrisk variants preferentially impacted genes involved in extracellular matrix (ECM) biology and axon guidance, functionally connected in a meta-network.

Conclusions:

  • Rare risk variants are key factors in the pathogenesis of SCZ and BPD.
  • Disruptions in neuronal connectivity development are highlighted as a critical etiological factor in both disorders.