Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease.
Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease.
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DOI：
10.1002/bies.201600177
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发表时间：
2017-02
期刊：
影响因子：
--
通讯作者：
Zakharenko SS
中科院分区：
文献类型：
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作者：
Devaraju P;Zakharenko SS
线粒体的ATP合成、钙缓冲和转运影响神经元的功能和存活。一些涉及线粒体功能的基因定位在与22q11.2缺失综合征(22q11DS)相关的基因组区域，这是神经精神疾病的关键遗传原因。尽管神经精神疾病造成了严重的健康和经济负担，但由于缺乏有效的动物模型和在研究神经元回路的病理生理学方面的挑战，其病因和发病机制在很大程度上仍不清楚。22q11DS的小鼠模型正在成为研究人类精神疾病的有效工具，因为它们具有患者体内缺失的基因的半合子缺失，并显示出与神经精神疾病一致的神经元和行为异常。一些与线粒体功能有关的22q11DS基因的缺失会导致神经元和突触功能的异常。在这里，我们总结了关于22q11DS中线粒体功能障碍的最新发现，并将这些发现扩展到精神分裂症和其他神经精神疾病的更大背景下。
Mitochondrial ATP synthesis, calcium buffering, and trafficking affect neuronal function and survival. Several genes implicated in mitochondrial functions map within the genomic region associated with 22q11.2 deletion syndrome (22q11DS), which is a key genetic cause of neuropsychiatric diseases. Although neuropsychiatric diseases impose a serious health and economic burden, their etiology and pathogenesis remain largely unknown because of the dearth of valid animal models and challenges in investigating the pathophysiology in neuronal circuits. Mouse models of 22q11DS are becoming valid tools for studying human psychiatric diseases, because they have hemizygous deletions of the genes that are deleted in patients and exhibit neuronal and behavioral abnormalities consistent with neuropsychiatric disease. The deletion of some 22q11DS genes implicated in mitochondrial function leads to abnormal neuronal and synaptic function. Herein, we summarize recent findings on mitochondrial dysfunction in 22q11DS and extend those findings to the larger context of schizophrenia and other neuropsychiatric diseases.