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"/tags.php?/%E6%95%B0%E6%8D%AE%E4%B8%AD%E5%BF%83/" [80]=> string(52) "/portal/registerSystemInfo?recordcode=11010502037511" } 新研究发现中国家族性阿尔茨海默病遗传规律 _前沿投讯-科技创造价值

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新研究发现中国家族性阿尔茨海默病遗传规律

  北京宣武医院贾建平教授团队近日在《阿尔茨海默病和老年痴呆症》杂志在线发表一项研究。该研究对404个中国家族性阿尔茨海默病(FAD)家系进行了17年的追访,系统揭示了这一疾病的遗传规律,为中国阿尔茨海默病(AD)的遗传学干预和基因治疗提供了理论基础。

  据悉,FAD十分罕见,但它集中了阿尔茨海默病所有病理生理特点,成为研究发病机制最佳人群。自1906年第一例阿尔茨海默病患者报道以来,重要的发病机制进展如Aβ学说、tau学说、炎症学说等都来源于FAD的研究。因此,研究者提出,阿尔茨海默病研究要从FAD入手。

  贾建平团队从2002年开始建立全国最大的家族性阿尔茨海默病登记网络,在全国收集FAD病例。截止到2019年9月,共收集404个家系,3700余人的家系成员。此次研究发现50种PSENs/APP突变,其中有11个突变在国际上首次报道,表明中国人与其他种族之间发病机制的异质性。404个家系中有83.17%的家系不携带已知基因PSENs/APP突变,尚有大量的未知基因有待挖掘,这种挖掘将会对发现中国人阿尔茨海默病的特色基因产生重要意义。

  该研究对理解中国人阿尔茨海默病的发病机制产生重要影响,也对国人阿尔茨海默病遗传干预和基因治疗提供了思路和平台,有望从编辑方面入手,逆转基因缺陷,为最终治愈阿尔茨海默病找到新突破点。

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