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Chromosomal abnormalities and mental illness.

D J MacIntyre1, D H R Blackwood, D J Porteous

  • 1Department of Psychiatry, University of Edinburgh, Scotland, UK.

Molecular Psychiatry
|March 28, 2003
PubMed
Summary
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Chromosomal abnormalities in patients with mental illness may pinpoint specific gene locations. Analyzing these breakpoints offers a promising approach to identify genetic factors for schizophrenia and bipolar disorder.

Area of Science:

  • Genetics
  • Psychiatry
  • Molecular Biology

Background:

  • Linkage studies suggest chromosomal regions associated with mental illness susceptibility.
  • Conventional linkage strategies alone are insufficient for identifying causative gene mutations.
  • Chromosomal abnormalities in patients with mental illness may offer more direct clues to relevant gene loci.

Purpose of the Study:

  • To review publications linking chromosomal abnormalities with mental illness.
  • To evaluate the significance of chromosomal abnormalities as indicators of genetic susceptibility loci.
  • To support the hypothesis of shared genetic factors for schizophrenia and bipolar disorder.

Main Methods:

  • Review of publications describing patients with co-existing chromosomal abnormalities and mental illness.

Related Experiment Videos

  • Assessment of chromosomal abnormalities based on rarity, colocalization with linkage findings, and cosegregation within families.
  • Exploration of molecular genetic breakpoint cloning and bioinformatic sequence analysis for candidate gene identification.

    • Main Results:

    • Breakpoints of chromosomal abnormalities have been identified within many loci suggested by linkage studies.
    • These findings support the hypothesis of shared susceptibility factors for schizophrenia and bipolar disorder.
    • The study encourages full karyotyping for individuals with psychotic illness, especially those with co-occurring conditions or family history.

    Conclusions:

    • Chromosomal abnormalities, particularly their breakpoints, are valuable pointers to gene loci implicated in mental illness.
    • Combining breakpoint analysis with molecular genetic and bioinformatic techniques can accelerate candidate gene discovery.
    • Karyotyping is recommended for individuals with psychotic disorders to uncover potential genetic underpinnings.