首例阿尔茨海默病中早老素 1 突变的再探讨。
A presenilin 1 mutation in the first case of Alzheimer's disease: revisited.
机构信息
Division of Human Biology and Human Genetics, Technical University of Kaiserslautern, Kaiserslautern, Germany; Network Aging Research (NAR), Heidelberg, Germany.
Network Aging Research (NAR), Heidelberg, Germany.
出版信息
Alzheimers Dement. 2014 Nov;10(6):869-72. doi: 10.1016/j.jalz.2014.06.005. Epub 2014 Aug 15.
BACKGROUND
Recently, a single point mutation in the presenilin 1 (PSEN1) gene of the first described Alzheimer's disease (AD) patient Auguste D was reported by Müller and co-workers. However, the sequencing results of the DNA from a 100-year-old tissue contained some uncertainties.
METHODS
We heat extracted DNA from an original histological slice of Auguste D's brain and used nested polymerase chain reaction for the amplification of different exons of genes known to be affected in familial forms of AD.
RESULTS
Our sequencing analysis did not validate the reported mutation. Furthermore, an extended sequencing analysis of Auguste D's DNA revealed no indication of a nonsynonymous hetero- or homozygous mutation in the exons of APP, PSEN1, and PSEN2 genes comprising the already known familial AD mutations.
CONCLUSION
Despite the wealth of data from Müller and co-workers, our results emphasize the requirement of more detailed analysis of Auguste D's DNA in future.
背景
最近，Müller 及其同事报道了首例阿尔茨海默病（AD）患者 Auguste D 的早老素 1（PSEN1）基因突变。然而，从 100 岁组织中提取的 DNA 的测序结果存在一些不确定性。
方法
我们从 Auguste D 大脑的原始组织切片中提取 DNA，并使用嵌套聚合酶链反应扩增已知在家族性 AD 形式中受影响的基因的不同外显子。
结果
我们的测序分析未验证报道的突变。此外，对 Auguste D 的 DNA 进行的扩展测序分析并未显示 APP、PSEN1 和 PSEN2 基因的外显子中存在已确定的家族性 AD 突变的非同义杂合或纯合突变。
结论
尽管 Müller 及其同事提供了丰富的数据，但我们的结果强调未来需要对 Auguste D 的 DNA 进行更详细的分析。
Zotero 插件