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Anticipation and repeat expansion in bipolar disorder
Michael O'Donovan1, Ian Jones, Nick Craddock
1Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK. odonovanmc@cf.ac.uk
Summary
Anticipation, where diseases worsen across generations, may occur in bipolar disorder (BPD). Research is investigating if trinucleotide repeat mutations, known causes of anticipation, are linked to BPD, but no definitive link has been found.
Area of Science:
- Genetics
- Neuroscience
- Medical Research
Background:
- Anticipation is a phenomenon where diseases exhibit earlier onset or increased severity in successive generations.
- Trinucleotide repeat mutations are the established genetic mechanism for true anticipation.
- Studies suggest anticipation may be present in bipolar disorder (BPD), but methodological issues could explain these findings.
Purpose of the Study:
- To investigate the potential role of trinucleotide repeat mutations in bipolar disorder.
- To explore whether anticipation is a genuine phenomenon in BPD inheritance.
Main Methods:
- Genome-wide surveys of BPD probands were conducted to identify large trinucleotide repeats.
- Candidate genes known to contain repeats were studied in relation to BPD.
- Analysis of existing data to assess the possibility of anticipation in BPD, considering potential methodological limitations.
Main Results:
- No pathogenic triplet repeat mutations have been unambiguously identified as a cause of anticipation in bipolar disorder to date.
- Despite extensive research, the genetic basis for potential anticipation in BPD remains elusive.
Conclusions:
- While anticipation is a known genetic phenomenon, its presence and underlying genetic cause in bipolar disorder require further investigation.
- Current research has not yet established a definitive link between trinucleotide repeat mutations and anticipation in BPD.