不同神经退行性疾病中TATA结合蛋白的聚谷氨酰胺编码重复序列分析。

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases.

作者信息

Wu Y R, Fung H C, Lee-Chen G J, Gwinn-Hardy K, Ro L S, Chen S T, Hsieh-Li H M, Lin H Y, Lin C Y, Li S N, Chen C M

机构信息

Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang-Gung University, 199 Tung Hwa North Road, Taipei, Taiwan.

出版信息

J Neural Transm (Vienna). 2005 Apr;112(4):539-46. doi: 10.1007/s00702-004-0197-9. Epub 2004 Sep 10.

DOI:10.1007/s00702-004-0197-9

PMID:15365789

Abstract

Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.

摘要

最近有研究表明，TATA结合蛋白（TBP）基因中的三核苷酸重复序列（TNR）扩增是17型脊髓小脑共济失调的病因。正常的重复序列数量被认为是42个或更少。据推测，具有较低外显率的中间范围是43 - 47个CAA/CAG重复序列。我们对30例常染色体显性遗传性小脑共济失调（ADCA）患者、35例散发性共济失调患者、11例亨廷顿舞蹈症（HD）患者、351例特发性帕金森病（PD）患者、105例阿尔茨海默病（AD）患者以及291例无神经退行性疾病病史的对照者进行了该基因检测。我们发现了3例TBP基因中携带超过42个TNR的患者（1例散发性PD患者和2例AD患者）。这表明与TBP基因中CAG/CAA扩增相关的表型可能具有异质性。