The yeast connection to Friedreich ataxia.
The yeast connection to Friedreich ataxia.
复制标题
酵母与弗里德赖希共济失调的联系。
DOI：
10.1086/302270
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发表时间：
1999
影响因子：
9.8
通讯作者：
Dancis,A
中科院分区：
文献类型：
--
作者：
Knight,SA;Kim,R;Pain,D;Dancis,A
遗传性神经退行性疾病，如亨廷顿病（HD）和弗里德赖希共济失调（FA），在遗传学和生物化学方面都取得了进展。在FA中，这些进展来自以下两种方法：人类疾病基因的定位，以及与远亲模式生物酿酒酵母的合作。这两种方法的融合，与人类基因的研究，导致酵母同源性和酵母突变体的表型的研究，导致人类同源性和其相关的diseases.FA的估计患病率为1/50，000在欧洲人群中，使其成为最常见的遗传性共济失调。在青春期开始的神经系统症状包括步态和肢体共济失调、下肢无反射和锥体无力、本体感觉丧失和构音障碍。大多数患者发生肥厚性心肌病和骨骼异常，有些患者发生糖尿病（Durr et al. 1996）。这些症状随着年龄的增长而加重，大多数患者在20多岁时就开始坐轮椅，并在30多岁时死亡，最常见的是充血性心力衰竭。
There have been both genetic and biochemical advances in the understanding of inherited neurodegenerative diseases, such as Huntington disease (HD) and Friedreich ataxia (FA). In FA, these advances have come from the following two approaches: the mapping of the disease gene in humans, and work with a distantly related model organism, Saccharomyces cerevisiae. These two approaches converged, with the study of the human gene leading to the yeast homologue and the study of the yeast mutant phenotypes leading to the human homologue and its associated disease.FA has an estimated prevalence of 1/50,000 in European populations, making it the most common inherited ataxia. The neurologic symptoms, which start during adolescence, include gait and limb ataxia, lower limb areflexia and pyramidal weakness, loss of proprioception, and dysarthria. Most patients develop hypertrophic cardiomyopathy and skeletal abnormalities, and some become diabetic (Durr et al. 1996). These symptoms progress with age, such that most patients become wheelchair-bound by their late twenties and die by their mid-thirties—most commonly of congestive heart failure.