Mitochondrial dysfunction in autistic patients with 15q inverted duplication
Mitochondrial dysfunction in autistic patients with 15q inverted duplication
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DOI：
10.1002/ana.10596
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发表时间：
2003-06-01
影响因子：
11.2
通讯作者：
Gargus, JJ
中科院分区：
文献类型：
--
作者：
Filipek, PA;Juranek, J;Gargus, JJ
两个自闭症儿童与染色体15 q11-q13反向重复。两人均无围产期事件，脑电图和磁共振成像扫描正常，中度运动延迟，嗜睡，严重肌张力减退和中度乳酸酸中毒。两者都有肌肉线粒体酶测定，显示出明显的线粒体过度增殖和部分呼吸链块最吝啬地放置在复合物III的水平，这表明自闭症的候选基因位点的关键区域内可能会影响影响线粒体功能的途径。
Two autistic children with a chromosome 15q11-q13 inverted duplication are presented. Both had uneventful perinatal courses, normal electroencephalogram and magnetic resonance imaging scans, moderate motor delay, lethargy, severe hypotonia, and modest lactic acidosis. Both had muscle mitochondrial enzyme assays that showed a pronounced mitochondrial hyperproliferation and a partial respiratory chain block most parsimoniously placed at the level of complex III, suggesting candidate gene loci for autism within the critical region may affect pathways influencing mitochondrial function.