Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial dysfunction has been implicated in a subgroup of ASD. Lactate, an indicator of energy metabolic anomalies, may serve as a potential biomarker for this subgroup. This study aimed to examine cerebral lactate (Lac+) levels in high-functioning adults with ASD, hypothesizing elevated mean Lac+ concentrations in contrast to neurotypical controls (NTCs). Magnetic resonance spectroscopy (MRS) was used to study cerebral Lac+ in 71 adults with ASD and NTC, focusing on the posterior cingulate cortex (PCC). After quality control, 64 ASD and 58 NTC participants remained. Lac+ levels two standard deviations above the mean of the control group were considered elevated. Mean PCC Lac+ levels were significantly higher in the ASD group than in the NTC group (p = 0.028; Cohen’s d = 0.404), and 9.4% of the ASD group had elevated levels as compared to 0% of the NTCs (p = 0.029). No significant correlation was found between blood serum lactate levels and MRS-derived Lac+ levels. A cautious interpretation of our results is warranted due to a p value of 0.028. In addition, a higher than anticipated proportion of data sets had to be excluded due to poor spectral quality. This study confirms the presence of elevated cerebral Lac+ levels in a subgroup of adults with ASD, suggesting the potential of lactate as a biomarker for mitochondrial dysfunction in a subgroup of ASD. The lower-than-expected prevalence (20% was expected) and moderate increase require further investigation to elucidate the underlying mechanisms and relationships with mitochondrial function.

中文翻译：

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与非自闭症对照相比，患有自闭症谱系障碍的成年人的脑乳酸水平升高：磁共振波谱研究

自闭症谱系障碍 (ASD) 涵盖具有不同表型和病因的异质群体。识别致病亚群可以促进有针对性的治疗。一个有希望的途径是研究能量代谢，因为线粒体功能障碍与自闭症谱系障碍的一个亚组有关。乳酸是能量代谢异常的指标，可以作为该亚组的潜在生物标志物。本研究旨在检查患有 ASD 的高功能成人的脑乳酸 (Lac+) 水平，假设与神经典型对照 (NTC) 相比，平均 Lac+ 浓度升高。使用磁共振波谱 (MRS) 研究 71 名患有 ASD 和 NTC 的成年人的大脑 Lac+，重点关注后扣带皮层 (PCC)。经过质量控制后，剩下 64 名 ASD 参与者和 58 名 NTC 参与者。Lac+ 水平比对照组平均值高两个标准差被认为是升高的。ASD 组的平均 PCC Lac+ 水平显着高于 NTC 组（p = 0.028；Cohen's d = 0.404），并且与 0% 的 NTC 组相比，9.4% 的 ASD 组的水平升高（p = 0.029） 。血清乳酸水平与 MRS 衍生的 La​​c+ 水平之间没有发现显着相关性。由于 p 值为 0.028，因此需要谨慎解释我们的结果。此外，由于光谱质量差，必须排除高于预期比例的数据集。这项研究证实了 ASD 成人亚组中脑 Lac+ 水平升高，表明乳酸有可能作为 ASD 亚组线粒体功能障碍的生物标志物。低于预期的患病率（预计为 20%）和适度的增加需要进一步研究以阐明潜在的机制以及与线粒体功能的关系。