Bailey Antoinette R, Giunta Brian N, Obregon Demian, Nikolic William V, Tian Jun, Sanberg Cyndy D, Sutton Danielle T, Tan Jun
Int J Clin Exp Med. 2008;1(4):338-44. Epub 2008 Oct 15.
Autism is a pervasive developmental disorder characterized by impairments in socialization and communication. There is currently no single molecular marker or laboratory tool capable of diagnosing autism at an early age. The purpose of this study is to explore the plausible use of peripheral biomarkers in the early diagnosis of autism via a sensitive ELISA. Here, we measured plasma secreted amyloid precursor protein alpha (sAPP-alpha) levels in autistic and aged-matched control blood samples and found a significantly increased level of sAPP-alpha in 60% of the known autistic children. We then tested 150 human umbilical cord blood (HUCB) samples and found significantly elevated levels of plasma sAPP-alpha in 10 of 150 samples. As an additional confirmatory measure, we performed Western blot analysis on these samples which consistently showed increased sAPP-alpha levels in autistic children and 10 of 150 HUCB samples; suggesting a group of autistic patients which could be identified in early childhood by levels of sAPP-alpha. While there is need for further studies of this concept, the measurement of sAPP-alpha levels in serum and human umbilical cord blood by ELISA is a potential tool for early diagnosis of autism.
自闭症是一种广泛性发育障碍，其特征为社交和沟通方面的缺陷。目前尚无单一的分子标志物或实验室工具能够在早期诊断出自闭症。本研究的目的是通过一种灵敏的酶联免疫吸附测定法（ELISA）探索外周生物标志物在自闭症早期诊断中的合理应用。在此，我们测量了自闭症患儿及年龄匹配的对照血样中血浆分泌型淀粉样前体蛋白α（sAPP-α）的水平，发现60%的已知自闭症患儿中sAPP-α水平显著升高。随后我们检测了150份人脐带血（HUCB）样本，发现150份样本中有10份血浆sAPP-α水平显著升高。作为一项额外的验证措施，我们对这些样本进行了蛋白质印迹分析，结果始终显示自闭症患儿及150份HUCB样本中的10份sAPP-α水平升高；这表明可通过sAPP-α水平在幼儿期识别出一组自闭症患者。虽然这一概念还需要进一步研究，但通过ELISA测定血清和人脐带血中sAPP-α水平是自闭症早期诊断的一种潜在工具。
