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Mitochondrial DNA sequence diversity in bipolar affective disorder
F J McMahon1, Y S Chen, S Patel
1Department of Psychiatry, University of Chicago, IL 60637, USA. fmcmahon@midway.uchicago.edu
The American Journal of Psychiatry
|June 30, 2000
Summary
Mitochondrial DNA (mtDNA) point mutations do not explain the maternal inheritance of bipolar disorder. Researchers found no significant differences in mtDNA variants between patients and controls across major European haplogroups.
Area of Science:
- Genetics
- Psychiatry
- Mitochondrial DNA
Background:
- Bipolar disorder exhibits complex inheritance patterns, with some families showing a notable excess of maternal transmission.
- Mitochondrial DNA (mtDNA) mutations are a potential, yet unproven, genetic mechanism contributing to this observed transmission pattern.
Purpose of the Study:
- To investigate whether point mutations in mitochondrial DNA (mtDNA) are associated with bipolar affective disorder.
- To determine if specific mtDNA variants could account for the excess maternal transmission of bipolar disorder observed in certain families.
Main Methods:
- Sequencing of the entire mitochondrial genome in nine probands from families with exclusive maternal transmission of bipolar disorder.
- Identification and analysis of 107 nucleotide variants, with 15 selected for further study based on potential pathogenicity.
- Assaying selected mtDNA variants in 93 unrelated probands and 63 controls, classified by European mtDNA haplogroups.
Main Results:
- Major European mtDNA haplogroups were equally represented in both bipolar disorder probands and control subjects.
- No significant association was found between any specific mtDNA variant and bipolar disorder.
- Four variants showed odds ratios greater than 2 or less than 0.5, but their frequencies were similar in probands and haplogroup-matched controls.
Conclusions:
- Bipolar affective disorder is present across all major European mtDNA haplogroups.
- The study did not identify any specific point mutations in mitochondrial DNA that explain the excess maternal transmission of bipolar disorder.