ACE gene missense mutation in a case with early-onset, rapid progressing dementia

ACE基因错义突变导致早发性、快速进展性痴呆症

阅读:1

Abstract

The population of early-onset Alzheimer's disease (EOAD) accounts for 1%-2% of the total population of Alzheimer's disease, and genetic mutations are more common in EOAD. The first symptom of the patient in the present case report was the decline in memories of recent events, and the disease progressed rapidly in the following 2 years. Genetic testing has revealed the presence of genetic mutations (c.A479G, p.N160S) of ACE, which causes the 160th codon of the ACE protein to change from aspartic acid to serine, and at the same time genotype of apolipoprotein E (APOE) is ɛ3/ɛ4. We think that this patient carries the mutation type of the sensitive gene ACE and the risk gene APOE of Alzheimer's disease, and this is the reason why the disease progressed rapidly. Moreover, we discussed ACE genetic mutation's meaning in EOAD progression.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。