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European Archives of Psychiatry and Clinical Neuroscience

Erschienen in:

01.09.2015 | Original Paper

AMPD1 functional variants associated with autism in Han Chinese population

verfasst von: Lusi Zhang, Jianjun Ou, Xiaojuan Xu, Yu Peng, Hui Guo, Yongcheng Pan, Jingjing Chen, Tianyun Wang, Hao Peng, Qiong Liu, Di Tian, Qian Pan, Xiaobin Zou, Jingping Zhao, Zhengmao Hu, Kun Xia

Erschienen in: European Archives of Psychiatry and Clinical Neuroscience | Ausgabe 6/2015

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Abstract

Autism is a childhood neurodevelopmental disorder with high heterogeneity. Following our genome-wide associated loci with autism, we performed sequencing analysis of the coding regions, UTR and flanking splice junctions of AMPD1 in 830 Chinese autism individuals as well as 514 unrelated normal controls. Fourteen novel variants in the coding sequence were identified, including 11 missense variants and 3 synonymous mutations. Among these missense variants, 10 variants were absent in 514 control subjects, and conservative and functional prediction was carried out. Mitochondria activity and lactate dehydrogenase assay were performed in 5 patients’ lymphoblast cell lines; p.P572S and p.S626C showed decreased mitochondrial complex I activity, and p.S626C increased lactate dehydrogenase release in medium. Conclusively, our data suggested that mutational variants in AMPD1 contribute to autism risk in Han Chinese population, uncovering the contribution of mutant protein to disease development that operates via mitochondria dysfunction and cell necrosis.

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Titel: AMPD1 functional variants associated with autism in Han Chinese population
verfasst von: Lusi Zhang
Jianjun Ou
Xiaojuan Xu
Yu Peng
Hui Guo
Yongcheng Pan
Jingjing Chen
Tianyun Wang
Hao Peng
Qiong Liu
Di Tian
Qian Pan
Xiaobin Zou
Jingping Zhao
Zhengmao Hu
Kun Xia
Publikationsdatum: 01.09.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: European Archives of Psychiatry and Clinical Neuroscience / Ausgabe 6/2015
Print ISSN: 0940-1334
Elektronische ISSN: 1433-8491
DOI: https://doi.org/10.1007/s00406-014-0524-6

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