Autism: a mitochondrial disorder?
Autism: a mitochondrial disorder?
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DOI：
10.1016/s0306-9877(98)90270-5
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发表时间：
1998-06-01
影响因子：
4.7
通讯作者：
Lombard, J
中科院分区：
文献类型：
--
作者：
Lombard, J
自闭症是一种以语言、感知和社交障碍为特征的发育障碍。各种生化、解剖和神经放射学研究表明自闭症患者存在脑能代谢紊乱。自闭症中生物能量代谢紊乱的潜在病因尚不清楚。一种可能的病因可能涉及线粒体功能障碍，并伴随中枢神经系统神经元氧化磷酸化缺陷。自闭症患者乳酸酸中毒和肉碱缺乏症的频繁联系支持了这一假设。线粒体容易受到一系列内源性和外源性因素的影响，这些因素似乎与过量的一氧化氮产生有关。增强线粒体功能的策略，无论是通过减少内源性有毒代谢物的产生，减少一氧化氮的产生，还是刺激线粒体酶的活性，都可能有益于自闭症的治疗。
Autism is a developmental disorder characterized by disturbance in language, perception and socialization. A variety of biochemical, anatomical and neuroradiographical studies imply a disturbance of brain energy metabolism in autistic patients. The underlying etiology of a disturbed bioenergetic metabolism in autism is unknown. A likely etiological possibility may involve mitochondrial dysfunction with concomitant defects in neuronal oxidative phosphorylation within the central nervous system. This hypothesis is supported by a frequent association of lactic acidosis and carnitine deficiency in autistic patients.Mitochondria are vulnerable to a wide array of endogenous and exogenous factors which appear to be linked by excessive nitric oxide production. Strategies to augment mitochondrial function, either by decreasing production of endogenous toxic metabolites, reducing nitric oxide production, or stimulating mitochondrial enzyme activity may be beneficial in the treatment of autism.