Institute of Health and Wellbeing,University of Glasgow,Glasgow,UK.
Institute of Neurological Sciences,Southern General Hospital,Glasgow,UK.
Br J Psychiatry. 2018 Jan;212(1):57-58. doi: 10.1192/bjp.2017.7.
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.
普拉德-威利综合征（PWS）是一种罕见的疾病，其病因是 15q11-13 号染色体父源染色体物质缺失（del PWS）或母源单亲二倍体（mUPD PWS）。情感性精神病在 mUPD PWS 中更为普遍。我们研究了两种 PWS 遗传变异与成人脑干 5-羟色胺转运体（5-HTT）可利用性之间的关系。通过[123I]-β-CIT 单光子发射断层扫描测定的 8 名 mUPD PWS 成人的平均脑干 5-HTT 可利用性低于 9 名 del PWS 成人（平均差异-0.93，t=-2.85，P=0.014）。我们的发现证实了 PWS 基因型与脑干 5-HTT 可利用性之间的关联，提示存在一个母源表达/父源印记的基因，可能解释了 PWS 变异体之间精神表型的差异。利益声明 无。
