Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome
Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome
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DOI：
10.1073/pnas.0704311104
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发表时间：
2007-09-18
影响因子：
11.1
通讯作者：
Berman, Karen Faith
中科院分区：
文献类型：
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作者：
Marenco, Stefano;Siuta, Michael A.;Berman, Karen Faith
对白色物质发育的遗传调控知之甚少。这些知识对于理解与认知改变相关的神经发育综合征的病理生理学以及阐明正常人类认知的遗传学至关重要。导致威廉姆斯综合征（WS）的染色体7q11.23上约25个基因的半缺失包括调节神经元中细胞骨架动力学的基因，特别是LIMK 1和CYLN 2，因此提供了研究这些基因在白色物质束形成中的作用的机会。我们使用扩散张量成像来证明WS中白色纤维方向性的改变、后纤维束路线的偏离和纤维连贯性的偏侧化减少。这些异常与神经元迁移的晚期阶段的改变一致，定义了WS中作为可分离行为表型基础的白色结构的改变，并提供关于白色物质束形成的遗传控制的人体内信息。
Little is known about genetic regulation of the development of white matter. This knowledge is critical in understanding the pathophysiology of neurodevelopmental syndromes associated with altered cognition as well as in elucidating the genetics of normal human cognition. The hemideletion of approximate to 25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and therefore offers the opportunity to investigate the role of these genes in the formation of white matter tracts. We used diffusion tensor imaging to demonstrate alteration in white matter fiber directionality, deviation in posterior fiber tract course, and reduced lateralization of fiber coherence in WS. These abnormalities are consistent with an alteration of the late stages of neuronal migration, define alterations of white matter structures underlying dissociable behavioral phenotypes in WS, and provide human in vivo information about genetic control of white matter tract formation.