肌萎缩侧索硬化症患者肌肉能量代谢紊乱

Disturbances in Muscle Energy Metabolism in Patients with Amyotrophic Lateral Sclerosis.

作者信息

Parvanovova Petra, Hnilicova Petra, Kolisek Martin, Tatarkova Zuzana, Halasova Erika, Kurca Egon, Holubcikova Simona, Koprusakova Monika Turcanova, Baranovicova Eva

机构信息

Department of Medical Biochemistry, Jessenius Faculty of Medicine, Comenius University in Bratislava, Mala Hora 4, 036 01 Martin, Slovakia.

Biomedical Centre Martin, Jessenius Faculty of Medicine, Comenius University in Bratislava, Mala Hora 4, 036 01 Martin, Slovakia.

出版信息

Metabolites. 2024 Jun 23;14(7):356. doi: 10.3390/metabo14070356.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease type of motor neuron disorder characterized by degeneration of the upper and lower motor neurons resulting in dysfunction of the somatic muscles of the body. The ALS condition is manifested in progressive skeletal muscle atrophy and spasticity. It leads to death, mostly due to respiratory failure. Within the pathophysiology of the disease, muscle energy metabolism seems to be an important part. In our study, we used blood plasma from 25 patients with ALS diagnosed by definitive El Escorial criteria according to ALSFR-R (Revised Amyotrophic Lateral Sclerosis Functional Rating Scale) criteria and 25 age and sex-matched subjects. Aside from standard clinical biochemical parameters, we used the NMR (nuclear magnetic resonance) metabolomics approach to determine relative plasma levels of metabolites. We observed a decrease in total protein level in blood; however, despite accelerated skeletal muscle catabolism characteristic for ALS patients, we did not detect changes in plasma levels of essential amino acids. When focused on alterations in energy metabolism within muscle, compromised creatine uptake was accompanied by decreased plasma creatinine. We did not observe changes in plasma levels of BCAAs (branched chain amino acids; leucine, isoleucine, valine); however, the observed decrease in plasma levels of all three BCKAs (branched chain alpha-keto acids derived from BCAAs) suggests enhanced utilization of BCKAs as energy substrate. Glutamine, found to be increased in blood plasma in ALS patients, besides serving for ammonia detoxification, could also be considered a potential TCA (tricarboxylic acid) cycle contributor in times of decreased pyruvate utilization. When analyzing the data by using a cross-validated Random Forest algorithm, it finished with an AUC of 0.92, oob error of 8%, and an MCC (Matthew's correlation coefficient) of 0.84 when relative plasma levels of metabolites were used as input variables. Although the discriminatory power of the system used was promising, additional features are needed to create a robust discriminatory model.

摘要

肌萎缩侧索硬化症(ALS)是一种致命的神经肌肉疾病,属于运动神经元疾病类型,其特征是上下运动神经元退化,导致身体躯体肌肉功能障碍。ALS病症表现为进行性骨骼肌萎缩和痉挛。它会导致死亡,主要原因是呼吸衰竭。在该疾病的病理生理学中,肌肉能量代谢似乎是一个重要部分。在我们的研究中,我们使用了根据ALSFR-R(修订的肌萎缩侧索硬化症功能评定量表)标准通过明确的埃尔埃斯科里亚尔标准诊断的25例ALS患者以及25名年龄和性别匹配的受试者的血浆。除了标准的临床生化参数外,我们使用核磁共振(NMR)代谢组学方法来确定代谢物的相对血浆水平。我们观察到血液中总蛋白水平下降;然而,尽管ALS患者具有加速的骨骼肌分解代谢特征,但我们未检测到必需氨基酸血浆水平的变化。当关注肌肉内能量代谢的改变时,肌酸摄取受损伴随着血浆肌酐水平下降。我们未观察到支链氨基酸(BCAAs;亮氨酸、异亮氨酸、缬氨酸)血浆水平的变化;然而,观察到的所有三种支链α-酮酸(源自BCAAs)血浆水平的下降表明BCAAs作为能量底物的利用率提高。在ALS患者血浆中发现谷氨酰胺增加,除了用于氨解毒外,在丙酮酸利用减少时也可被视为三羧酸(TCA)循环的潜在贡献者。当使用交叉验证的随机森林算法分析数据时,以代谢物的相对血浆水平作为输入变量时,其曲线下面积(AUC)为0.92,袋外误差为8%,马修斯相关系数(MCC)为0.84。尽管所使用系统的判别能力很有前景,但仍需要额外的特征来创建一个强大的判别模型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a80/11278632/70f7bd4b5780/metabolites-14-00356-g001.jpg

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