运动神经元疾病中脑和血液中雄激素受体三联体重复序列长度的比较。
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases.
作者信息
Saunderson Rebecca B, Yu Bing, Trent Ronald J A, Pamphlett Roger
机构信息
Department of Pathology, The University of Sydney, Australia.
出版信息
J Neurol Sci. 2008 Apr 15;267(1-2):125-8. doi: 10.1016/j.jns.2007.10.006. Epub 2007 Nov 13.
BACKGROUND
Expansions of triplet repeats are found in a number of neurodegenerative conditions, and different tissues in the same person can have varying repeat lengths. In Kennedy disease, motor neuron loss is due to expansion of the CAG repeat length in the androgen receptor gene (AR). We hypothesised that patients with other sporadic motor neuron diseases could have AR expansions that were restricted to CNS tissue.
METHODS
We measured the AR triplet repeat length in DNA extracted from the brains of 23 patients with sporadic amyotrophic lateral sclerosis (SALS) and 3 with sporadic progressive muscular atrophy (SPMA). Paired blood samples were available in 15 patients to look for blood-brain differences in CAG repeat length.
RESULTS
No CAG expansions in the Kennedy disease range were found in the SALS or SPMA brains. Furthermore, no brain-blood differences were found in the lengths of AR triplet repeats. Brain AR repeat length was not associated with the duration, or age or site of onset, of disease.
CONCLUSIONS
The findings indicate that a brain-specific expansion of AR triplet repeats is unlikely to underlie motor neuron loss in SALS or SPMA.
背景
在多种神经退行性疾病中发现了三联体重复序列的扩增，同一个人的不同组织可能具有不同的重复长度。在肯尼迪病中，运动神经元丢失是由于雄激素受体基因（AR）中CAG重复长度的扩增。我们推测，其他散发性运动神经元疾病患者可能存在仅限于中枢神经系统组织的AR扩增。
方法
我们测量了从23例散发性肌萎缩侧索硬化症（SALS）患者和3例散发性进行性肌肉萎缩（SPMA）患者的大脑中提取的DNA中的AR三联体重复长度。15例患者有配对的血液样本，以寻找CAG重复长度的脑血差异。
结果
在SALS或SPMA大脑中未发现肯尼迪病范围内的CAG扩增。此外，在AR三联体重复长度上未发现脑血差异。脑AR重复长度与疾病的持续时间、发病年龄或发病部位无关。
结论
这些发现表明，AR三联体重复序列的脑特异性扩增不太可能是SALS或SPMA中运动神经元丢失的原因。
Zotero 插件