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阅读障碍风险基因与听觉脑干中声音的表征有关。

Dyslexia risk gene relates to representation of sound in the auditory brainstem.

作者信息

Neef Nicole E, Müller Bent, Liebig Johanna, Schaadt Gesa, Grigutsch Maren, Gunter Thomas C, Wilcke Arndt, Kirsten Holger, Skeide Michael A, Kraft Indra, Kraus Nina, Emmrich Frank, Brauer Jens, Boltze Johannes, Friederici Angela D

机构信息

Department of Neuropsychology, Max Planck Institute for Human Cognitive and Brain Sciences, 04103 Leipzig, Germany.

Department of Cell Therapy, Fraunhofer Institute for Cell Therapy and Immunology, 04103 Leipzig, Germany.

出版信息

Dev Cogn Neurosci. 2017 Apr;24:63-71. doi: 10.1016/j.dcn.2017.01.008. Epub 2017 Jan 17.

Abstract

Dyslexia is a reading disorder with strong associations with KIAA0319 and DCDC2. Both genes play a functional role in spike time precision of neurons. Strikingly, poor readers show an imprecise encoding of fast transients of speech in the auditory brainstem. Whether dyslexia risk genes are related to the quality of sound encoding in the auditory brainstem remains to be investigated. Here, we quantified the response consistency of speech-evoked brainstem responses to the acoustically presented syllable [da] in 159 genotyped, literate and preliterate children. When controlling for age, sex, familial risk and intelligence, partial correlation analyses associated a higher dyslexia risk loading with KIAA0319 with noisier responses. In contrast, a higher risk loading with DCDC2 was associated with a trend towards more stable responses. These results suggest that unstable representation of sound, and thus, reduced neural discrimination ability of stop consonants, occurred in genotypes carrying a higher amount of KIAA0319 risk alleles. Current data provide the first evidence that the dyslexia-associated gene KIAA0319 can alter brainstem responses and impair phoneme processing in the auditory brainstem. This brain-gene relationship provides insight into the complex relationships between phenotype and genotype thereby improving the understanding of the dyslexia-inherent complex multifactorial condition.

摘要

阅读障碍是一种与KIAA0319和DCDC2密切相关的阅读障碍。这两个基因在神经元的放电时间精度中发挥功能性作用。引人注目的是,阅读能力差的人在听觉脑干中对语音快速瞬变的编码不准确。阅读障碍风险基因是否与听觉脑干中的声音编码质量相关仍有待研究。在这里,我们对159名已进行基因分型、识字和未识字儿童对声学呈现的音节[da]的言语诱发脑干反应的反应一致性进行了量化。在控制年龄、性别、家族风险和智力后,偏相关分析表明,KIAA0319的阅读障碍风险负荷越高,反应越嘈杂。相比之下,DCDC2的风险负荷越高,反应越稳定的趋势越明显。这些结果表明,在携带较高数量KIAA0319风险等位基因的基因型中,声音的表征不稳定,从而降低了塞音的神经辨别能力。目前的数据提供了首个证据,表明与阅读障碍相关的基因KIAA0319可以改变脑干反应并损害听觉脑干中的音素处理。这种脑-基因关系为表型和基因型之间的复杂关系提供了见解,从而增进了对阅读障碍内在复杂多因素状况的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57e9/6987796/f4f21d6fe122/gr1.jpg

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