神经精神遗传学的一个转折点。

A tipping point in neuropsychiatric genetics.

作者信息

McClellan Jon M, King Mary-Claire

机构信息

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.

Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA, USA.

出版信息

Neuron. 2021 May 5;109(9):1411-1413. doi: 10.1016/j.neuron.2021.04.002.

DOI:10.1016/j.neuron.2021.04.002

PMID:33957066

Abstract

Severe neuropsychiatric disorders are so genetically heterogeneous that virtually every unrelated patient harbors different clinically significant alleles. By studying schizophrenia in the Ashkenazi Jewish founder population, Lencz and co-authors identified rare severe alleles each shared by a few patients. Experimental evaluation of an implicated protocadherin allele revealed failure to form homophilic cellular aggregates as a possible mechanism for defective development of neural circuits.

摘要

严重的神经精神疾病在基因上具有高度异质性，几乎每个无亲缘关系的患者都携带不同的具有临床意义的等位基因。通过对阿什肯纳兹犹太奠基人群体中的精神分裂症进行研究，伦茨及其合著者发现了一些罕见的严重等位基因，每个等位基因都为少数患者所共有。对一种涉及的原钙黏蛋白等位基因进行实验评估后发现，无法形成同嗜性细胞聚集体可能是神经回路发育缺陷的一种机制。