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Mitochondrial mutations and polymorphisms in psychiatric disorders.

Adolfo Sequeira1, Maureen V Martin, Brandi Rollins

  • 1Functional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California Irvine, CA, USA.

Frontiers in Genetics
|June 23, 2012
PubMed
Summary
This summary is machine-generated.

Mitochondrial DNA (mtDNA) mutations and deletions were examined in psychiatric disorders. Increased common deletions were found in bipolar disorder brain regions, but no significant mtDNA single nucleotide polymorphism associations were detected.

Keywords:
bipolar disordercommon deletionhomoplasmymitochondrianovel mutationsschizophrenia

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Mitochondrial dysfunction is implicated in schizophrenia (SZ) and bipolar disorder (BD).
  • The role of mitochondrial DNA (mtDNA) variations, including polymorphisms and mutations, in these disorders remains unclear.

Purpose of the Study:

  • To investigate common deletions and single nucleotide polymorphisms (mtSNPs) in mtDNA as potential causes for SZ and BD.
  • To analyze mtDNA variations in specific brain regions and blood samples.

Main Methods:

  • Next-generation sequencing of mtDNA (mtDNA-Seq) and genotyping arrays were used.
  • The 4,977 bp common deletion was quantified in brain regions and blood.
  • mtSNP associations with SZ and BD were tested in large cohorts using GWAS data.

Main Results:

  • Common deletion levels varied significantly across brain regions, increasing with age, and were higher in brain than blood.
  • Increased common deletion levels were observed in the dorsolateral prefrontal cortex (DLPFC) in BD patients compared to controls.
  • No significant genome-wide mtSNP associations were found for SZ or BD, though nominal associations were noted in the mtDNA hypervariable region.

Conclusions:

  • Certain brain regions accumulate somatic mtDNA mutations at higher rates than blood.
  • mtDNA common deletions may play a role in the pathophysiology of bipolar disorder.
  • Further large-scale studies on mtDNA variations are needed to understand their contribution to psychiatric disorders.