Mitochondrial DNA abnormalities and autistic spectrum disorders

被引:104
作者
Pons, R
Andreu, AL
Checcarelli, N
Vilá, MR
Engelstad, K
Sue, CM
Shungu, D
Haggerty, R
De Vivo, DC
DiMauro, S
机构
[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
[2] Columbia Univ Coll Phys & Surg, Dept Pediat, New York, NY 10032 USA
[3] Columbia Univ Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA
[4] Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain
基金
美国国家卫生研究院;
关键词
D O I
10.1016/j.jpeds.2003.10.023
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:81 / 85
页数:5
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