Mitochondrial dysfunction is considered one of the pathophysiological mechanisms of autism spectrum disorder (ASD). However, previous studies of biomarkers associated with mitochondrial dysfunction in ASD have revealed inconsistent results. The objective of this study was to evaluate biochemical markers associated with mitochondrial dysfunction in subjects with ASD and their unaffected family members. Lactate and pyruvate levels, as well as the lactate-to-pyruvate ratio, were examined in the peripheral blood of probands with ASD (Affected Group, AG) and their unaffected family members (biological parents and unaffected siblings, Unaffected Group, UG). Lactate ≥22 mg/dl, pyruvate ≥1.4 mg/dl, and lactate-topyruvate ratio >25 were defined as abnormal. The clinical variables were compared between subjects with higher (>25) and lower (≤25) lactate-topyruvate ratios within the AG. The AG (n=59) had a significantly higher lactate and lactate-to-pyruvate ratio than the UG (n=136). The frequency of subjects with abnormally high lactate levels and lactate-to-pyruvate ratio was significantly higher in the AG (lactate 31.0% vs. 9.5%, ratio 25.9% vs. 7.3%, p<0.01). The relationship between lactate level and the repetitive behavior domain of the Autism Diagnostic Interview-Revised was statistically significant. These results suggest that biochemical markers related to mitochondrial dysfunction, especially higher lactate levels and lactateto- pyruvate ratio, might be associated with the pathophysiology of ASD. Further larger studies using unrelated individuals are needed to control for the possible effects of age and sex on chemical biomarker levels.

中文翻译：

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自闭症谱系障碍中较高的乳酸水平和乳酸/丙酮酸比。

线粒体功能障碍被认为是自闭症谱系障碍（ASD）的病理生理机制之一。但是，先前对与ASD中线粒体功能障碍有关的生物标志物的研究显示出不一致的结果。这项研究的目的是评估与ASD及其未受影响家庭成员的线粒体功能障碍相关的生化标志物。在患有ASD的先证者（患病组，AG）及其未患病家庭成员（生物学父母和未患病兄弟姐妹，未患病组，UG）中检查了乳酸和丙酮酸水平，以及乳酸与丙酮酸的比率。乳酸≥22mg / dl，丙酮酸≥1.4mg / dl，乳酸-丙酮酸比> 25被定义为异常。比较具有较高（>> AG中的乳酸-丙酮酸比例低于25（25）和更低（≤25）。AG（n = 59）具有比UG（n = 136）高得多的乳酸和乳酸/丙酮酸比。乳酸水平异常高且乳酸与丙酮酸比例异常的受试者在AG中的发生率明显更高（乳酸31.0％对9.5％，比例25.9％对7.3％，p <0.01）。乳酸水平与自闭症诊断访谈修订版的重复行为域之间的关系具有统计学意义。这些结果表明，与线粒体功能障碍有关的生化标志物，尤其是乳酸水平和乳酸-丙酮酸比率更高，可能与ASD的病理生理有关。需要使用不相关个体的更大的研究来控制年龄和性别对化学生物标志物水平的可能影响。