The early-onset torsion dystonia gene (DYT1) encodes an ATP binding protein
The early-onset torsion dystonia gene (DYT1) encodes an ATP binding protein
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DOI：
10.1038/ng0997-40
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发表时间：
1997-09-01
期刊：
影响因子：
30.8
通讯作者：
Breakefield, XO
中科院分区：
文献类型：
--
作者：
Ozelius, LJ;Hewett, JW;Breakefield, XO
早发性扭转性肌张力障碍是一种运动障碍，其特征在于扭转性肌肉挛缩，始于儿童时期。这些症状被认为是由基底神经节中神经元通讯的改变引起的。这项研究确定了人类染色体9 q34上的cnc基因是这种显性疾病的原因。几乎所有早发性肌张力障碍的病例都有一个独特的3-bp缺失，该缺失似乎在不同种族人群中独立出现。这种缺失导致一种新的ATP结合蛋白（称为torsinA）的保守区中一对谷氨酸残基的丢失。这种蛋白质在线虫、大鼠、小鼠和人类中具有同源物，与热休克蛋白和Clp蛋白酶家族有一些相似之处。
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia, This study identifies the DMI gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.