's Heeren Loo, Department Advisium, Wekerom, The Netherlands; Governor Kremers Centre, Maastricht University Medical Centre, The Netherlands.
Governor Kremers Centre, Maastricht University Medical Centre, The Netherlands; Department of Bioinformatics - BiGCaT, Maastricht University, Maastricht, The Netherlands.
Res Dev Disabil. 2018 Nov;82:79-89. doi: 10.1016/j.ridd.2018.02.017. Epub 2018 Mar 1.
It is assumed that autism spectrum disorder (ASD) is caused by a combination of de novo inherited variation and common variation as well as environmental factors. It often co-occurs with intellectual disability (ID). Almost eight hundred potential causative genetic variations have been found in ASD patients. However, not one of them is responsible for more than 1% of ASD cases. Low melatonin levels are a frequent finding in ASD patients. Melatonin levels are negatively correlated with severity of autistic impairments, it is important for normal neurodevelopment and is highly effective in protecting DNA from oxidative damage. Melatonin deficiency could be a major factor, and well a common heritable variation, that increases the susceptibility to environmental risk factors for ASD. ASD is already present at birth. As the fetus does not produce melatonin, low maternal melatonin levels may be involved.
We measured 6-sulfatoxymelatonin in urine of 60 mothers of a child with ASD and controls.
6-sulfatoxymelatonin levels were significantly lower in mothers with an ASD child than in controls (p = 0.012).
Low parental melatonin levels could be one of the contributors to ASD and possibly ID etiology. Our findings need to be duplicated on a larger scale. If our hypothesis is correct, this could lead to policies to detect future parents who are at risk and to treatment strategies to ASD and intellectual disability risk.
自闭症谱系障碍（ASD）被认为是由新生遗传变异和常见变异以及环境因素共同引起的。它通常与智力障碍（ID）同时发生。在 ASD 患者中已经发现了近 800 种潜在的致病遗传变异。然而，没有一种变异能够导致超过 1%的 ASD 病例。ASD 患者常出现褪黑素水平降低的现象。褪黑素水平与自闭症损害的严重程度呈负相关，对正常神经发育很重要，并且能有效保护 DNA 免受氧化损伤。褪黑素缺乏可能是一个主要因素，也是常见的可遗传变异，增加了对 ASD 的环境风险因素的易感性。ASD 早在出生时就已存在。由于胎儿不产生褪黑素，因此可能与低水平的母体褪黑素有关。
我们测量了 60 名 ASD 患儿的母亲和对照组的尿液中的 6-硫酸褪黑素。
ASD 患儿的母亲的 6-硫酸褪黑素水平明显低于对照组（p=0.012）。
低水平的父母褪黑素可能是 ASD 和可能的 ID 病因之一。我们的研究结果需要在更大的范围内进行复制。如果我们的假设是正确的，这可能会导致制定出检测有风险的未来父母的政策，并制定出针对 ASD 和智力障碍风险的治疗策略。
