Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Translational Medicine Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Biomolecules. 2023 May 19;13(5):863. doi: 10.3390/biom13050863.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, leading to muscle weakness, paralysis, and eventual death. Research from the past few decades has appreciated that ALS is not only a disease of the motor neurons but also a disease that involves systemic metabolic dysfunction. This review will examine the foundational research of understanding metabolic dysfunction in ALS and provide an overview of past and current studies in ALS patients and animal models, spanning from full systems to various metabolic organs. While ALS-affected muscle tissue exhibits elevated energy demand and a fuel preference switch from glycolysis to fatty acid oxidation, adipose tissue in ALS undergoes increased lipolysis. Dysfunctions in the liver and pancreas contribute to impaired glucose homeostasis and insulin secretion. The central nervous system (CNS) displays abnormal glucose regulation, mitochondrial dysfunction, and increased oxidative stress. Importantly, the hypothalamus, a brain region that controls whole-body metabolism, undergoes atrophy associated with pathological aggregates of TDP-43. This review will also cover past and present treatment options that target metabolic dysfunction in ALS and provide insights into the future of metabolism research in ALS.
肌萎缩侧索硬化症(ALS)是一种影响运动神经元的神经退行性疾病,导致肌肉无力、瘫痪,最终导致死亡。过去几十年的研究表明,ALS 不仅是运动神经元的疾病,而且还涉及全身代谢功能障碍。本综述将检查理解 ALS 中代谢功能障碍的基础研究,并概述 ALS 患者和动物模型的过去和当前研究,从整个系统到各种代谢器官。虽然 ALS 受累的肌肉组织表现出能量需求增加和燃料偏好从糖酵解转变为脂肪酸氧化的转变,但 ALS 中的脂肪组织经历脂肪分解增加。肝脏和胰腺的功能障碍导致葡萄糖稳态受损和胰岛素分泌受损。中枢神经系统(CNS)表现出异常的葡萄糖调节、线粒体功能障碍和氧化应激增加。重要的是,控制全身代谢的大脑区域下丘脑会发生与 TDP-43 病理性聚集相关的萎缩。本综述还将涵盖过去和现在针对 ALS 代谢功能障碍的治疗选择,并为 ALS 代谢研究的未来提供见解。
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