La Belle Vie Research Laboratory, 8-4 Nihonbashi-Tomizawacho, Chuo-ku, Tokyo 103-0006, Japan.
Int J Environ Res Public Health. 2013 Nov 11;10(11):6027-43. doi: 10.3390/ijerph10116027.
The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0-15 years-old), and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7%) and 347 (17.6%) were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0-3 years-old. In contrast, 339 (17.2%), 168 (8.5%) and 94 (4.8%) individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0-3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor "infantile window" is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders.
基因与环境的相互作用现在被认为是自闭症最有可能的解释。在这篇综述中,我们总结了一项金属组学研究的结果,该研究检查了 1967 名自闭症儿童(1553 名男性和 414 名女性,年龄 0-15 岁)的头皮头发中 26 种微量元素的浓度,并讨论了我们对婴儿期矿物质失衡在自闭症发病机制中的表观遗传作用的最新认识。在 1967 名受试者中,分别有 584 名(29.7%)和 347 名(17.6%)缺锌和缺镁,估计 0-3 岁男性婴儿缺锌发生率为 43.5%,女性为 52.5%。相比之下,分别有 339 名(17.2%)、168 名(8.5%)和 94 名(4.8%)个体患有高铝、镉和铅负荷,而汞和砷的负荷则低于 2.8%。在 0-3 岁的婴儿中,观察到更高的有毒金属负荷,其发生率分别为 20.6%、12.1%、7.5%、3.2%和 2.3%,铝、镉、铅、砷和汞。这些发现表明,婴儿期锌和镁缺乏和/或有毒金属负荷可能是关键的,并在自闭症儿童的神经发育基因和遗传调控机制中诱导表观遗传改变,并表明时间因素“婴儿期窗口”对于神经发育和可能的治疗也很关键。因此,早期的金属组学分析可能导致自闭症神经发育障碍的早期筛查/估计以及治疗/预防。