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Nat Neurosci:基因Top3β缺陷导致一系列神经发育疾病

2013-08-21 koo bio360

日前,刊登在《自然-神经科学》杂志上的两篇论文从遗传学和生物化学角度找到证据证明:RNA结合蛋白Top3β可能是导致精神分裂症、自闭症谱系障碍和智力缺陷的一种共同因素。结合之前一些研究认为的精神分裂症和自闭症可能拥有共同的遗传风险因素的结论,这两项新研究确定了与这些疾病共有的认知缺陷有关的潜在生物过程。【原文下载1】【原文下载2】 由于过去数个世纪的人口迁移模式的影响,芬

日前,刊登在《自然-神经科学》杂志上的两篇论文从遗传学和生物化学角度找到证据证明:RNA结合蛋白Top3β可能是导致精神分裂症、自闭症谱系障碍和智力缺陷的一种共同因素。结合之前一些研究认为的精神分裂症和自闭症可能拥有共同的遗传风险因素的结论,这两项新研究确定了与这些疾病共有的认知缺陷有关的潜在生物过程。【原文下载1】【原文下载2



由于过去数个世纪的人口迁移模式的影响,芬兰北部某地区的精神分裂症患者比例较高。通过对该人群的研究,来自芬兰分子医学研究所等机构的科学家们发现,这类患者中有些人的基因组(其中包括Top3β在内)有一个小缺失,而这种基因上的突变增加了认知缺陷和精神分裂症的患病风险。

而在另一项研究中,来自美国国家老龄化研究所的研究人员报告称,Top3β 蛋白会与RNA结合,也会与之分离,而该过程依赖于其与另一RNA结合蛋白FMRP的相互作用。负责编码FMRP蛋白的基因会在脆性X综合征(一种包括智力缺陷和自闭症在内的病症)中发生突变。

研究人员还发现,与FMRP相结合的RNA中有许多也与Top3β相结合,并且,与FMRP中的突变相似,Top3β的突变会导致苍蝇和小鼠神经元突触发育不正常。

原始出处:

Georg Stoll, Olli P H Pietiläinen, Bastian Linder, Jaana Suvisaari, Cornelia Brosi, William Hennah, Virpi Leppä, Minna Torniainen, Samuli Ripatti, Sirpa Ala-Mello, Oliver Plöttner, Karola Rehnström, Annamari Tuulio-Henriksson, Teppo Varilo, Jonna Tallila, Kati Kristiansson, Matti Isohanni, Jaakko Kaprio, Johan G Eriksson, Olli T Raitakari, Terho Lehtimäki, Marjo-Riitta Jarvelin, Veikko Salomaa, Matthew Hurles, Hreinn Stefansson, Leena Peltonen, Patrick F Sullivan, Tiina Paunio, Jouko Lönnqvist, Mark J Daly, Utz Fischer, Nelson B Freimer & Aarno Palotie. Deletion of TOP3β, a component of FMRP -containing mRNPs, contributes to neurodevelopmental disorders. Nature Neuroscience, 04 August 2013; doi:10.1038/nn.3484 【原文下载

Dongyi Xu, Weiping Shen, Rong Guo, Yutong Xue, Wei Peng, Jian Sima, Jay Yang, Alexei Sharov, Subramanya Srikantan, Jiandong Yang, David Fox III, Yong Qian, Jennifer L Martindale, Yulan Piao, James Machamer, Samit R Joshi, Subhasis Mohanty, Albert C Shaw, Thomas E Lloyd, Grant W Brown, Minoru S H Ko, Myriam Gorospe, Sige Zou& Weidong Wang. Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation. Nature Neuroscience, 04 August 2013; doi:10.1038/nn.3479 【原文下载

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    2014-03-21 liye789132251
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    2013-12-06 jktdtl
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    2013-08-23 neurowu
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    2013-08-23 lsndxfj

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