title: No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia.
abstract: Several recent studies have suggested that expanded CAG repeats may contribute to the genetic transmission of bipolar disorder and schizophrenia. In all known disorders associated with expanded CAG repeats, the repeat sequence is translated into glutamine. Therefore the simplest hypothesis is that one or more proteins with expanded polyglutamine sequences are involved in the pathogenesis of bipolar disorder and schizophrenia. In order to examine this hypothesis, we have used an antibody against expanded polyglutamine sequences to examine Western blots prepared from lymphoblastoid cell lines of patients with schizophrenia and bipolar disorder. We also examined Western blots prepared from left frontal cortex tissue samples obtained from 11 schizophrenics post mortem. With the exception of the TATA-binding protein (TBP), we did not detect any proteins containing expanded polyglutamine sequences. Our data therefore suggest either that the expanded repeats which are associated with these disorders do not encode polyglutamine, or that they are within genes that are not expressed within the tissues investigated here.
authors.affiliation: Division of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
authors.forename: A L
authors.initials: AL
authors.lastname: Jones
authors.forename: F
authors.initials: F
authors.lastname: Middle
authors.forename: C
authors.initials: C
authors.lastname: Guy
authors.forename: G
authors.initials: G
authors.lastname: Spurlock
authors.forename: N J
authors.initials: NJ
authors.lastname: Cairns
authors.forename: P
authors.initials: P
authors.lastname: McGuffin
authors.forename: N
authors.initials: N
authors.lastname: Craddock
authors.forename: M
authors.initials: M
authors.lastname: Owen
authors.forename: M C
authors.initials: MC
authors.lastname: O'Donovan
mesh_terms: D000328:Adult; D000368:Aged; D001714:Bipolar Disorder / Q000235:genetics*; D002460:Cell Line; D005260:Female; D005625:Frontal Lobe / Q000378:metabolism; D006801:Humans; D008214:Lymphocytes; D008297:Male; D008875:Middle Aged; D010455:Peptides; D012559:Schizophrenia / Q000235:genetics* / Q000378:metabolism; D018911:Trinucleotide Repeats
chemical_list: D010455:Peptides; C097188:polyglutamine