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博来霉素水解酶基因型与阿尔茨海默病之间关联的确认。

Confirmation of the association between bleomycin hydrolase genotype and Alzheimer's disease.

作者信息

Papassotiropoulos A, Bagli M, Jessen F, Frahnert C, Rao M L, Maier W, Heun R

机构信息

Department of Psychiatry, University of Bonn, Sigmund-Freud-Str 25, 53105 Bonn, Germany.

出版信息

Mol Psychiatry. 2000 Mar;5(2):213-5. doi: 10.1038/sj.mp.4000656.

DOI:10.1038/sj.mp.4000656
PMID:10822352
Abstract

Bleomycin hydrolase (BH), a cysteine protease from the papain superfamily, is considered to be a candidate for the beta-secretase, which is presumably involved in the production of beta-amyloid peptide. The G/G genotype of BH was identified as a significant risk factor for the development of Alzheimer's disease (AD) in subjects not carrying the apolipoprotein E epsilon4 allele (apoE-epsilon4). However, this finding was recently challenged. We studied this polymorphism in a homogenous sample of German AD patients and controls. The over-representation of the G/G genotype in AD patients could be confirmed, however it was more pronounced in apoE-epsilon4 carriers. Additional studies should be undertaken to increase the confidence that the BH polymorphism is associated with AD and to explore the relationship between BH and apoE.

摘要

博来霉素水解酶(BH)是木瓜蛋白酶超家族的一种半胱氨酸蛋白酶,被认为是β-分泌酶的候选者,β-分泌酶可能参与β-淀粉样肽的产生。在不携带载脂蛋白Eε4等位基因(apoE-ε4)的受试者中,BH的G/G基因型被确定为患阿尔茨海默病(AD)的一个重要风险因素。然而,这一发现最近受到了质疑。我们在德国AD患者和对照的同质样本中研究了这种多态性。AD患者中G/G基因型的过度表现得到了证实,不过在apoE-ε4携带者中更为明显。应该进行更多的研究,以增强对BH多态性与AD相关的信心,并探索BH与apoE之间的关系。

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