McMillan P J, Leverenz J B, Poorkaj P, Schellenberg G D, Dorsa D M
Department of Pharmacology, University of Washington, Seattle 98195, USA.
J Histochem Cytochem. 1996 Nov;44(11):1215-22. doi: 10.1177/44.11.8918895.
Mutations in the STM2 gene cause familial Alzheimer's disease (AD) in Volga Germans. To understand the function of this protein and how mutations lead to AD, it is important to determine which cell types in the brain express this gene. In situ hybridization histochemistry indicates that STM2 expression in the human brain is widespread and is primarily neuronal. In addition, STM2 mRNA is expressed in a cell line with neuronal origins. Quantification of the level of expression of the STM2 message in the basal forebrain, frontal cortex, and hippocampus reveals a significant decrease in AD-affected subjects compared to normal age-matched controls. These data suggest that downregulation of neuronal STM2 gene expression may be involved in the progression of AD.
STM2基因的突变导致伏尔加德意志人中的家族性阿尔茨海默病（AD）。为了解该蛋白的功能以及突变如何导致AD，确定大脑中的哪些细胞类型表达该基因很重要。原位杂交组织化学表明，STM2在人类大脑中的表达广泛且主要为神经元表达。此外，STM2 mRNA在具有神经元起源的细胞系中表达。对基底前脑、额叶皮质和海马体中STM2信息表达水平的定量分析显示，与年龄匹配的正常对照组相比，AD患者组的表达水平显著降低。这些数据表明，神经元STM2基因表达的下调可能与AD的进展有关。
