Nature:阿尔茨海默氏症的新遗传风险变异体

2014-02-08 Natureasia Natureasia

RR淀粉质前体蛋白、presenilin 1和 presenilin 2中引起阿尔茨海默氏症的突变的识别,使我们对这种疾病的病理生物学有了更好的认识。预计还会发现进一步的突变,但识别这种变异体一直具有挑战性。 本文作者采用外显子组测序方法来识别对晚发病的阿尔茨海默氏症有很大影响的低频率编码变异体。他们报告了PLD3基因中的几个编码变异体(编码磷脂酶D3),这些变异体至少将患病风险增加两倍


RR淀粉质前体蛋白、presenilin 1和 presenilin 2中引起阿尔茨海默氏症的突变的识别,使我们对这种疾病的病理生物学有了更好的认识。预计还会发现进一步的突变,但识别这种变异体一直具有挑战性。

本文作者采用外显子组测序方法来识别对晚发病的阿尔茨海默氏症有很大影响的低频率编码变异体。他们报告了PLD3基因中的几个编码变异体(编码磷脂酶D3),这些变异体至少将患病风险增加两倍。

PLD3也许在也也淀粉质的处理中起一定作用,并且还具有作为一个新的治疗目标的潜力。

原文出处:

Cruchaga C1, Karch CM2, Jin SC3, Benitez BA4, Cai Y4, Guerreiro R5, Harari O4, Norton J4, Budde J4, Bertelsen S4, Jeng AT4, Cooper B4, Skorupa T4, Carrell D4, Levitch D4, Hsu S4, Choi J4, Ryten M6; UK Brain Expression Consortium, Hardy J6, Ryten M6, Trabzuni D6, Weale ME7, Ramasamy A7, Smith C8, Sassi C5, Bras J6, Gibbs JR5, Hernandez DG5, Lupton MK9, Powell J10, Forabosco P11, Ridge PG12, Corcoran CD13, Tschanz JT14, Norton MC15, Munger RG16, Schmutz C12, Leary M12, Demirci FY17, Bamne MN17, Wang X17, Lopez OL18, Ganguli M19, Medway C20, Turton J20, Lord J20, Braae A20, Barber I20, Brown K20; Alzheimer’s Research UK Consortium, Passmore P21, Craig D21, Johnston J21, McGuinness B21, Todd S21, Heun R22, Kölsch H23, Kehoe PG24, Hooper NM25, Vardy ER26, Mann DM27, Pickering-Brown S27, Brown K20, Kalsheker N20, Lowe J20, Morgan K20, David Smith A28, Wilcock G28, Warden D28, Holmes C28, Pastor P29, Lorenzo-Betancor O30, Brkanac Z31, Scott E32, Topol E32, Morgan K20, Rogaeva E33, Singleton AB34, Hardy J6, Kamboh MI35, St George-Hyslop P36, Cairns N37, Morris JC38, Kauwe JS12, Goate AM39.Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.Nature. 2014 Jan 23;505(7484):550-4. doi: 10.1038/nature12825. Epub 2013 Dec 11.【原文下载】

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    2014-12-17 liye789132251
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