Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome.
Br J Psychiatry
; 212(1): 57-58, 2018 01.
Article
em En
| MEDLINE
| ID: mdl-29433608
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. Declaration of interest None.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Prader-Willi
/
Cromossomos Humanos Par 15
/
Tronco Encefálico
/
Deleção Cromossômica
/
Dissomia Uniparental
/
Proteínas da Membrana Plasmática de Transporte de Serotonina
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article