自闭症谱系障碍中的线粒体功能障碍假说：现状与未来展望。
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.
机构信息
Institute for Biomedical Research and Innovation, National Research Council, IRIB-CNR, 87050 Mangone CS, Italy.
Institute for Biomedical Research and Innovation, National Research Council, IRIB-CNR, 98164 Messina, Italy.
出版信息
Int J Mol Sci. 2020 Aug 12;21(16):5785. doi: 10.3390/ijms21165785.
Abstract
Autism spectrum disorders (ASDs) constitute a set of heterogeneous neurodevelopmental conditions, characterized by a wide genetic variability that has led to hypothesize a polygenic origin. The metabolic profiles of patients with ASD suggest a possible implication of mitochondrial pathways. Although different physiological and biochemical studies reported deficits in mitochondrial oxidative phosphorylation in subjects with ASD, the role of mitochondrial DNA variations has remained relatively unexplored. In this review, we report and discuss very recent evidence to demonstrate the key role of mitochondrial disorders in the development of ASD.
摘要
自闭症谱系障碍（ASD）是一组异质性神经发育障碍，其特征是遗传变异性广泛，这导致了多基因起源的假设。ASD 患者的代谢谱表明线粒体途径可能存在潜在影响。尽管不同的生理和生化研究报告了 ASD 患者中线粒体氧化磷酸化的缺陷，但线粒体 DNA 变异的作用仍相对未知。在这篇综述中，我们报告并讨论了最新的证据，以证明线粒体疾病在 ASD 发展中的关键作用。
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3
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