Timchenko L T, Caskey C T
Department of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA.
FASEB J. 1996 Dec;10(14):1589-97. doi: 10.1096/fasebj.10.14.9002550.
Several human disorders are now known to be caused by expansion of unstable trinucleotide repeat sequences, including fragile X syndrome (FRAX), myotonic dystrophy (DM), spinal and bulbar muscular atrophy (SBMA, also known as Kennedy disease), Huntington disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD), and Friedreich ataxia. As these diseases are studied in more detail, important differences have emerged in the nature of the unstable repeats and the mechanism by which the repeat expansions cause disease symptoms. There are already animal models of some of these disorders, and these are important resources for studying pathology and therapeutic strategies. Diagnostic procedures for these disorders are only beginning to be standardized, and effective therapy will have to wait for further information on disease mechanisms. Much has been learned since discovery of the fragile X syndrome gene in 1991, but much remains to be done.
目前已知几种人类疾病是由不稳定的三核苷酸重复序列扩增引起的，包括脆性X综合征（FRAX）、强直性肌营养不良（DM）、脊髓延髓肌萎缩症（SBMA，也称为肯尼迪病）、亨廷顿舞蹈症（HD）、齿状核红核苍白球路易体萎缩症（DRPLA）、脊髓小脑共济失调1型（SCA1）、马查多-约瑟夫病（MJD）和弗里德赖希共济失调。随着对这些疾病研究的深入，不稳定重复序列的性质以及重复序列扩增导致疾病症状的机制出现了重要差异。其中一些疾病已经有了动物模型，这些是研究病理学和治疗策略的重要资源。这些疾病的诊断程序才刚刚开始标准化，有效的治疗方法还需等待更多关于疾病机制的信息。自1991年发现脆性X综合征基因以来，人们已经了解了很多，但仍有许多工作要做。
