Alternative transcripts of presenilin‐1 associated with frontotemporal dementia
Alternative transcripts of presenilin‐1 associated with frontotemporal dementia
复制标题
与额颞叶痴呆相关的早老蛋白-1 的替代转录物
DOI：
10.1097/00001756-200204160-00036
复制
发表时间：
2002
期刊：
影响因子：
1.7
通讯作者：
J. Culvenor
中科院分区：
文献类型：
--
作者：
G. Evin;Margaret J. Smith;Angela Tziotis;C. Mclean;L. Canterford;R. Sharples;R. Cappai;A. Weidemann;K. Beyreuther;R. Cotton;C. Masters;J. Culvenor
我们分析了阿尔茨海默病相关早老素1(PS1)在各种神经退行性疾病中的表达。Western blotting在对照组、帕金森、亨廷顿和精神分裂症受试者的大脑皮质中发现了类似的PS1 N-末端和C-末端片段。在7例散发性额颞叶痴呆(FTD)患者中，6例还存在42 kDa和46 kDa的PS1免疫反应阳性物质，其中2例尤为突出。套式RT-PCR分析显示PS1基因产物存在外显子4-8区域的缺失。我们的结果提示PS1的选择性转录可能与FTD有关。
&NA; We have analyzed the expression of Alzheimer's disease‐associated presenilin 1 (PS1) in various neurodegenerative disorders. Western blotting identified PS1 N‐ and C‐terminal fragments similarly in the cortex of controls, Parkinson, Huntington and schizophrenia subjects. Additional PS1 immunoreactive species of 42 and 46 kDa were present in six out of seven cases of sporadic frontotemporal dementia (FTD) and these were particularly prominent in two cases. RT‐PCR analysis using nested primers showed the presence of PS1 gene products with deletions within the exon 4–8 region. Our results suggest that alternative transcription of PS1 may be associated with FTD.