Kowalska A, Danker-Hopfe H, Wender M, Florczak J, Walter H
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Hum Genet. 1996 Dec;98(6):744-6. doi: 10.1007/s004390050297.
The deposition of beta A4-amyloid in senile plaques in the brain and small cerebral vessels is one of the pathological hallmarks of Alzheimer's disease (AD). Serine protease inhibitors (serpins) such as alpha 1-antitrypsin and alpha 1-antichymotrypsin have been found to be associated with beta-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased. We have analyzed alpha 1-antitrypsin phenotypes in a sample of 29 Polish patients with probable Alzheimer's disease. We have found an increased frequency of the PI*M3 allele (0.1897) in patients in comparison with the general population control (0.0563).
β-淀粉样蛋白4在大脑老年斑和脑小血管中的沉积是阿尔茨海默病(AD)的病理特征之一。已发现丝氨酸蛋白酶抑制剂(丝氨酸蛋白酶抑制剂)如α1-抗胰蛋白酶和α1-抗糜蛋白酶与β-淀粉样蛋白沉积有关;因此,最近人们对它们在AD发病机制中的作用的兴趣有所增加。我们分析了29名波兰可能患有阿尔茨海默病的患者样本中的α1-抗胰蛋白酶表型。我们发现,与一般人群对照组(0.0563)相比,患者中PI*M3等位基因的频率增加(0.1897)。