线粒体DNA异常与自闭症谱系障碍
Mitochondrial DNA abnormalities and autistic spectrum disorders.
作者信息
Pons Roser, Andreu Antoni L, Checcarelli Nicoletta, Vilà Maya R, Engelstad Kristin, Sue Carolyn M, Shungu Dikoma, Haggerty Rita, de Vivo Darryl C, DiMauro Salvatore
机构信息
Departments of Neurology, Pediatrics, and Psychiatry, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.
出版信息
J Pediatr. 2004 Jan;144(1):81-5. doi: 10.1016/j.jpeds.2003.10.023.
OBJECTIVES
To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three.
RESULTS
Three patients manifested isolated autistic spectrum features and two had additional neurologic symptoms. Two patients harbored the A3243G mutation. In two others, the A3243G mutation was not found in accessible tissues but was present in tissues from their mothers. The fifth patient had 72% mtDNA depletion in skeletal muscle.
CONCLUSIONS
Autistic spectrum disorders with or without additional neurologic features can be early presentations of the A3243G mtDNA mutation and can be a prominent clinical manifestation of mtDNA depletion. Mitochondrial dysfunction should be considered in patients who have autistic features and associated neurologic findings or who have evidence of maternal inheritance.
目的
进一步明确与自闭症特征相关的线粒体DNA（mtDNA）缺陷，尤其是A3243G mtDNA突变和mtDNA耗竭。
研究设计
对5名患有自闭症谱系障碍且有线粒体DNA疾病家族史的患者进行研究。我们对所有患者进行了mtDNA分析，并对其中3名患者进行了磁共振波谱分析。
结果
3名患者表现为孤立的自闭症谱系特征，2名患者有其他神经系统症状。2名患者携带A3243G突变。另外2名患者在可获取的组织中未发现A3243G突变，但在其母亲的组织中存在该突变。第5名患者骨骼肌中的mtDNA耗竭达72%。
结论
伴有或不伴有其他神经系统特征的自闭症谱系障碍可能是A3243G mtDNA突变的早期表现，也可能是mtDNA耗竭的突出临床表现。对于具有自闭症特征和相关神经系统表现或有母系遗传证据的患者，应考虑线粒体功能障碍。
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