用于舞蹈病-棘红细胞增多症诊断的舞蹈蛋白检测

Chorein detection for the diagnosis of chorea-acanthocytosis.

作者信息

Dobson-Stone Carol, Velayos-Baeza Antonio, Filippone Lea A, Westbury Sarah, Storch Alexander, Erdmann Torsten, Wroe Stephen J, Leenders Klaus L, Lang Anthony E, Dotti Maria Teresa, Federico Antonio, Mohiddin Saidi A, Fananapazir Lameh, Daniels Geoff, Danek Adrian, Monaco Anthony P

机构信息

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

出版信息

Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200.

DOI:10.1002/ana.20200

PMID:15293285

Abstract

Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.

摘要

舞蹈病-棘红细胞增多症（ChAc）是一种严重的神经退行性疾病，与亨廷顿舞蹈病和麦克劳德综合征具有共同的临床特征。它由VPS13A基因突变引起，该基因编码一种名为 chorein 的大型蛋白质。使用抗 chorein 抗血清，我们发现在所有分析的人类细胞中都有 chorein 的表达。然而，ChAc 患者细胞中没有 chorein 表达或明显减少，但麦克劳德综合征和亨廷顿舞蹈病细胞中没有这种情况。这表明 chorein 表达缺失是 ChAc 的一个诊断特征。