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A proteome is the entire set of proteins that a cell type produces. We can study proteomes using the knowledge of genomes because genes code for mRNAs, and the mRNAs encode proteins. Although mRNA analysis is a step in the right direction, not all mRNAs are translated into proteins.
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Updated: Nov 8, 2025

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Exome hits demystified: The next frontier.

Dhruva Ithal1, Salil K Sukumaran1, Debanjan Bhattacharjee1

  • 1Department of Psychiatry, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.

Asian Journal of Psychiatry
|April 23, 2021
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Summary

Severe mental illnesses involve complex genetics. This review links rare variants in 28 genes from affected families to neuropsychiatric conditions and biological pathways, aiding future research.

Keywords:
In silicoRare variantsSevere mental illnessWhole exome sequencing

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Severe mental illnesses like schizophrenia and bipolar disorder exhibit complex inheritance.
  • Rare genetic variants are increasingly recognized as contributors to these conditions.
  • Whole exome sequencing aids in identifying rare genetic variants.

Purpose of the Study:

  • To review biological processes and gene expression patterns of rare variants identified in multiplex families with severe mental illness.
  • To link these genetic findings to known clinical manifestations.
  • To consolidate current knowledge on genes associated with severe mental illness.

Main Methods:

  • Systematic narrative review of previously reported rare variants in 7 multiplex families.
  • Analysis of 28 genes associated with severe mental illness.
  • Examination of gene functions, biological pathways, and clinical associations.

Main Results:

  • Six of the reviewed genes are implicated in neuropsychiatric manifestations and brain morphology changes.
  • Fifteen genes are linked to neuropsychiatric conditions without established brain morphological changes.
  • Seven genes lacked prior association with neuropsychiatric disorders.
  • Key signaling pathways identified include Wnt/b-catenin, PI3K/AKT, calcium, ERK, RhoA, and notch signaling.

Conclusions:

  • The review consolidates genetic and biological information for genes implicated in severe mental illness.
  • Understanding these genetic underpinnings is crucial for advancing diagnostic and therapeutic strategies.
  • A 'disease in dish' approach is proposed for further mechanistic exploration.