自闭症谱系障碍中的线粒体酶功能障碍；从口腔拭子分析中揭示的一种新型生物标志物。
Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.
作者信息
Goldenthal Michael J, Damle Shirish, Sheth Sudip, Shah Nidhi, Melvin Joseph, Jethva Reena, Hardison Huntley, Marks Harold, Legido Agustin
机构信息
Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
出版信息
Biomark Med. 2015;9(10):957-65. doi: 10.2217/bmm.15.72. Epub 2015 Oct 6.
AIM
Mitochondrial function studies in autism spectrum disorders (ASD) have detected skeletal muscle mitochondrial enzyme deficiencies in respiratory complex (RC) activities. As a muscle biopsy is expensive and invasive, we assessed RC-I and RC-IV activities in buccal swabs.
METHODS
92 children with ASD and 68 controls were studied with immunocapture for RC-I and microspectrophotometry for RC-IV.
RESULTS
Significant RC activity deficiencies were found in 39 (42%) ASD patients (p < 0.01) and more prevalent in more severe cases. Aberrant RC overactivity was seen in 9 children. RC-I/RC-IV activity ratio was significantly increased in 64% of the entire ASD cohort including 76% of those more severely affected (p < 0.05).
CONCLUSION
Buccal swab analysis revealed extensive RC abnormalities in ASD providing a noninvasive biomarker to assess mitochondrial function in ASD patients.
目的
自闭症谱系障碍（ASD）的线粒体功能研究已检测到呼吸复合物（RC）活性方面的骨骼肌线粒体酶缺陷。由于肌肉活检昂贵且具有侵入性，我们评估了颊拭子中的RC-I和RC-IV活性。
方法
对92名患有ASD的儿童和68名对照进行了研究，采用免疫捕获法检测RC-I，用显微分光光度法检测RC-IV。
结果
在39名（42%）ASD患者中发现了显著的RC活性缺陷（p < 0.01），且在病情更严重的病例中更为普遍。在9名儿童中观察到RC异常过度活跃。在整个ASD队列的64%中，RC-I/RC-IV活性比率显著升高，其中76%为病情更严重的患者（p < 0.05）。
结论
颊拭子分析显示ASD中存在广泛的RC异常，为评估ASD患者的线粒体功能提供了一种非侵入性生物标志物。
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