Chan, H-M; (2008) Rare mutation on PCM1 causes susceptibility to schizophrenia. Doctoral thesis , UCL (University College London).

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Abstract

Schizophrenia is a major mental illness that affects 0.85% of the population and has been shown to have a strong genetic component. Previous family linkage studies have shown that there is a susceptibility locus present in the chromosome 8p21-22 region. Subsequently allelic association studies have shown that the pericentriolar- material 1 (PCM1) gene is involved in genetic susceptibility to schizophrenia. Several potential disease mutations in PCM1 have been found. One of these was a rare G->T mutation on PCM1 exon 24. This mutation was found to co-segregate with schizophrenia in a single family. The objective of this research project was to replicate this finding in a sample of 613 cases and 624 control DNA samples. One of the methods used was a novel real-time polymerase chain reaction (PCR) High Resolution Melting point assay on DNA from cases and controls. Artificially- designed positive control templates incorporating the single base change were created. After genotyping, all potential mutants were sequenced. The mutation was discovered in at least 2 of the 613 cases while still awaiting sequencing results for the 624 controls. The two new mutations are being followed up in the families of the probands to check whether the mutation is found in other affected relatives. It is proposed that mutations involving PCM1 may cause a subtype of schizophrenia, and that rare mutations are important in predisposing towards schizophrenia.

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