Martinoli M G, Trojanowski J Q, Schmidt M L, Arnold S E, Fujiwara T M, Lee V M, Hurtig H, Julien J P, Clark C
Centre for Research in Neuroscience, Montréal General Hospital, McGill University, Canada.
Acta Neuropathol. 1995;90(3):239-43. doi: 10.1007/BF00296506.
Apolipoprotein E (APOE) is a lipoprotein expressed in liver and brain as one of three isoforms (APOE 2, APOE 3 and APOE 4). Recent findings suggest that the presence of APOE 4 is associated with an increased risk for both familial Alzheimer's disease and late-onset Alzheimer's disease. We extended these observations by determining the frequency of APOE alleles in patients with pathologically confirmed Alzheimer's Disease (AD), Parkinson's disease (PD), diffuse Lewy Body disease (DLBD), AD with concomitant PD pathology, demented PD patients without or with concomitant AD pathology and in schizophrenics with a progressive dementia (SCHIZ+DEM). The APOE genotype was determined by restriction digestion of polymerase chain reaction-amplified DNA isolated from frozen brain samples. The frequency of the APOE epsilon 4 allele was highest among sporadic AD and DLBD patients (0.30 and 0.38, respectively) and lowest in the SCHIZ+DEM and non-demented PD patients (0.06 and 0.1, respectively). Thus, the APOE epsilon 4 allele is over-represented selectively in patients with dementias associated with plaques and tangles and/or cortical Lewy bodies, but not in demented schizophrenics or non-demented PD patients.
载脂蛋白E（APOE）是一种在肝脏和大脑中表达的脂蛋白，有三种异构体（APOE 2、APOE 3和APOE 4）。最近的研究结果表明，APOE 4的存在与家族性阿尔茨海默病和晚发性阿尔茨海默病的风险增加有关。我们通过测定经病理证实的阿尔茨海默病（AD）、帕金森病（PD）、弥漫性路易体病（DLBD）、伴有PD病理的AD、无或伴有AD病理的痴呆性PD患者以及患有进行性痴呆的精神分裂症患者（SCHIZ+DEM）中APOE等位基因的频率，扩展了这些观察结果。通过对从冷冻脑样本中分离的聚合酶链反应扩增DNA进行限制性消化来确定APOE基因型。APOE ε4等位基因的频率在散发性AD和DLBD患者中最高（分别为0.30和0.38），在SCHIZ+DEM和非痴呆性PD患者中最低（分别为0.06和0.1）。因此，APOE ε4等位基因在与斑块和缠结和/或皮质路易体相关的痴呆患者中选择性地过度表达，但在痴呆性精神分裂症患者或非痴呆性PD患者中则不然。
