Amyotrophic Lateral Sclerosis (ALS): An Overview of Genetic and Metabolic Signaling Mechanisms.

José Augusto Nogueira-Machado, Francisco das Chagas Lima E Silva, Fabiana Rocha E Silva, Nathalia Gomes
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Abstract

Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and incurable disease. Sporadic (sALS) accounts for ninety percent of ALS cases, while familial ALS (fALS) accounts for around fifteen percent. Reports have identified over 30 different forms of familial ALS. Multiple types of fALS exhibit comparable symptoms with mutations in different genes and possibly with different predominant metabolic signals. Clinical diagnosis takes into account patient history but not genetic mutations, misfolded proteins, or metabolic signaling. As research on genetics and metabolic pathways advances, it is expected that the intricate complexity of ALS will compound further. Clinicians discuss whether a gene's presence is a cause of the disease or just an association or consequence. They believe that a mutant gene alone is insufficient to diagnose ALS. ALS, often perceived as a single disease, appears to be a complex collection of diseases with similar symptoms. This review highlights gene mutations, metabolic pathways, and muscle-neuron interactions.

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肌萎缩侧索硬化症(ALS):遗传和代谢信号机制概述。
肌萎缩性脊髓侧索硬化症(ALS)是一种罕见的渐进性不治之症。散发性(sALS)占 ALS 病例的 90%,而家族性 ALS(fALS)约占 15%。有报告指出,家族性 ALS 有 30 多种不同形式。多种类型的家族性渐进性肌萎缩性脊髓侧索硬化症(fALS)表现出相似的症状,但基因突变不同,主要代谢信号也可能不同。临床诊断会考虑患者病史,但不会考虑基因突变、折叠错误的蛋白质或代谢信号。随着遗传学和代谢途径研究的进展,预计 ALS 的复杂性将进一步加剧。临床医生讨论的问题是,基因的存在是疾病的原因,还是只是一种关联或结果。他们认为,仅凭突变基因不足以诊断 ALS。肌萎缩性脊髓侧索硬化症通常被认为是一种单一的疾病,但它似乎是一系列症状相似的复杂疾病的集合。这篇综述重点介绍了基因突变、代谢途径和肌肉神经元之间的相互作用。
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