Department of Neurosciences and Mental Health, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.
Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Int J Mol Sci. 2021 Mar 29;22(7):3550. doi: 10.3390/ijms22073550.
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders whose pathogenesis seems to be related to an imbalance of excitatory and inhibitory synapses, which leads to disrupted connectivity during brain development. Among the various biomarkers that have been evaluated in the last years, metabolic factors represent a bridge between genetic vulnerability and environmental aspects. In particular, cholesterol homeostasis and circulating fatty acids seem to be involved in the pathogenesis of ASDs, both through the contribute in the stabilization of cell membranes and the modulation of inflammatory factors. The purpose of the present review is to summarize the available data about the role of cholesterol and fatty acids, mainly long-chain ones, in the onset of ASDs. A bibliographic research on the main databases was performed and 36 studies were included in our review. Most of the studies document a correlation between ASDs and hypocholesterolemia, while the results concerning circulating fatty acids are less univocal. Even though further studies are necessary to confirm the available data, the metabolic biomarkers open to new treatment options such as the modulation of the lipid pattern through the diet.
自闭症谱系障碍（ASD）是一组神经发育障碍，其发病机制似乎与兴奋性和抑制性突触的失衡有关，这导致了大脑发育过程中的连接中断。在过去几年中评估的各种生物标志物中，代谢因素是遗传易感性和环境因素之间的桥梁。特别是胆固醇稳态和循环脂肪酸似乎都参与了 ASDs 的发病机制，它们通过稳定细胞膜和调节炎症因子来发挥作用。本综述的目的是总结关于胆固醇和脂肪酸（主要是长链脂肪酸）在 ASD 发病中的作用的现有数据。对主要数据库进行了文献研究，共纳入了 36 项研究。大多数研究都记录了 ASDs 与低胆固醇血症之间的相关性，而关于循环脂肪酸的结果则不太一致。尽管还需要进一步的研究来证实现有数据，但代谢生物标志物为新的治疗选择打开了大门，例如通过饮食调节脂质模式。
