Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader–Willi syndrome

Krishnadas, R. , Cooper, S.-A. , Nicol, A., Pimlott, S., Soni, S., Holland, A., McArthur, L. and Cavanagh, J. (2018) Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader–Willi syndrome. British Journal of Psychiatry, 212(1), pp. 57-58. (doi: 10.1192/bjp.2017.7)

Abstract

Prader–Willi syndrome (PWS) is a rare condition because of the deletion of paternal chromosomal material (del PWS), or a maternal uniparental disomy (mUPD PWS), at 15q11-13. Affective psychosis is more prevalent in mUPD PWS. We investigated the relationship between the two PWS genetic variants and brain-stem serotonin transporter (5-HTT) availability in adult humans. Mean brain-stem 5-HTT availability determined by [123I]-beta-CIT single photon emission tomography was lower in eight adults with mUPD PWS compared with nine adults with del PWS (mean difference −0.93, t = −2.85, P = 0.014). Our findings confirm an association between PWS genotype and brain-stem 5-HTT availability, implicating a maternally expressed/paternally imprinted gene, that is likely to account for the difference in psychiatric phenotypes between the PWS variants.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Cavanagh, Professor Jonathan and Soni, Dr Sarita and Cooper, Professor Sally-Ann and Pimlott, Dr Sally and McArthur, Miss Laura and Krishnadas, Dr Rajeev
• Authors: Krishnadas, R., Cooper, S.-A., Nicol, A., Pimlott, S., Soni, S., Holland, A., McArthur, L., and Cavanagh, J.
• College/School: College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Mental Health and Wellbeing; College of Medical Veterinary and Life Sciences > School of Psychology & Neuroscience
• Journal Name: British Journal of Psychiatry
• Publisher: Royal College of Psychiatrists
• ISSN: 0007-1250
• ISSN (Online): 1472-1465
• Published Online: 04 January 2018
• Copyright Holders: Copyright © 2018 The Royal College of Psychiatrists
• First Published: First published in British Journal of Psychiatry 212(1):57-58
• Publisher Policy: Reproduced in accordance with the copyright policy of the publisher