Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society
Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society
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DOI：
10.1159/000449049
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发表时间：
2016-01-01
影响因子：
1.1
通讯作者：
Busciglio, Jorge
中科院分区：
文献类型：
--
作者：
Delabar, Jean-Maurice;Allinquant, Bernadette;Busciglio, Jorge
唐氏综合症（DS）是人类智力残疾（ID）最常见的遗传原因，在世界范围内的发生率约为1:10 000活产。它是由人类21号染色体长臂的全部或部分的额外拷贝（21三体）引起的。患有退行性椎体滑移的人表现出涉及大多数器官和器官系统的一系列表型改变。ID存在于所有DS患者中，尽管严重程度不同。退行性痴呆也是阿尔茨海默病（AD）最常见的遗传原因，大约50%的退行性痴呆患者会发展为AD相关痴呆。在过去的几年中，在了解退行性椎体滑移中关键的基因型-表型关系，确定导致退行性椎体滑移中各种临床状况的分子途径的改变，以及在临床前评估潜在治疗方法以改善退行性椎体滑移患者的整体健康和福祉方面取得了重大进展。2015年6月，230名科学家、倡导者、患者和家属齐聚巴黎，参加第一届21三体研究学会国际会议。在这里，我们报告一些在会议期间发生的最相关的演讲。(C) 2016 S. Karger AG，巴塞尔
Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of similar to 1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a constellation of phenotypic alterations involving most organs and organ systems. ID is present in all people with DS, albeit with variable severity. DS is also the most frequent genetic cause of Alzheimer's disease (AD), and similar to 50% of those with DS will develop AD-related dementia. In the last few years, significant progress has been made in understanding the crucial genotype-phenotype relationships in DS, in identifying the alterations in molecular pathways leading to the various clinical conditions present in DS, and in preclinical evaluations of potential therapies to improve the overall health and well-being of individuals with DS. In June 2015, 230 scientists, advocates, patients, and family members met in Paris for the 1st International Conference of the Trisomy 21 Research Society. Here, we report some of the most relevant presentations that took place during the meeting. (C) 2016 S. Karger AG, Basel