葡萄糖代谢障碍是进行性肌阵挛癫痫的特征之一:聚焦神经元类脂膜炎。

IF 4.2 3区 医学 Q2 NEUROSCIENCES
Frontiers in Cellular Neuroscience Pub Date : 2024-09-19 eCollection Date: 2024-01-01 DOI:10.3389/fncel.2024.1445003
Lorenzo Santucci, Sara Bernardi, Rachele Vivarelli, Filippo Maria Santorelli, Maria Marchese
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引用次数: 0

摘要

葡萄糖是大脑的主要燃料来源,用于产生能量和分子。葡萄糖代谢障碍与成人和儿童神经退行性疾病有关,如阿尔茨海默病(AD)、帕金森病(PD)、GLUT1 缺乏综合征和进行性肌阵挛癫痫(PMEs)。进行性肌阵挛癫痫是一组典型的儿童和青少年神经系统疾病,占全球儿童和青少年癫痫疾病的 1%。在拉弗拉病(Lafora disease,LD)、齿颊苍白肌萎缩症(dentatorubral-pallidoluysian,DRPLA)、乌韦里希特-伦堡病(Unverricht-Lundborg disease,ULD)和伴有锯齿状红色纤维的肌阵挛癫痫(myoclonus epilepsy with ragged red fibers,MERRFs)等 PMEs 患者的大脑中可观察到弥漫性葡萄糖代谢低下。PMEs还包括神经细胞类脂膜炎(NCLs),这是一个溶酶体和自噬功能障碍导致视力逐渐丧失、脑萎缩和认知能力下降的亚组。我们研究了糖代谢受损在神经退行性疾病中的作用,尤其是在 NCLs 中的作用。我们的文献综述(包括病例报告和动物实验研究结果)显示,在不同的 NCLs 中,葡萄糖代谢低下在体外和体内的特征仍然不甚明了。更好地识别 NCLs 中受损的葡萄糖代谢途径可能会为评估抗糖尿病药物在这一人群中的治疗潜力开辟新的途径,从而为能够延缓甚至阻止疾病进展的治疗方法带来前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.

Glucose is the brain's main fuel source, used in both energy and molecular production. Impaired glucose metabolism is associated with adult and pediatric neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), GLUT1 deficiency syndrome, and progressive myoclonus epilepsies (PMEs). PMEs, a group of neurological disorders typical of childhood and adolescence, account for 1% of all epileptic diseases in this population worldwide. Diffuse glucose hypometabolism is observed in the brains of patients affected by PMEs such as Lafora disease (LD), dentatorubral-pallidoluysian (DRPLA) atrophy, Unverricht-Lundborg disease (ULD), and myoclonus epilepsy with ragged red fibers (MERRFs). PMEs also include neuronal ceroid lipofuscinoses (NCLs), a subgroup in which lysosomal and autophagy dysfunction leads to progressive loss of vision, brain atrophy, and cognitive decline. We examine the role of impaired glucose metabolism in neurodegenerative diseases, particularly in the NCLs. Our literature review, which includes findings from case reports and animal studies, reveals that glucose hypometabolism is still poorly characterized both in vitro and in vivo in the different NCLs. Better identification of the glucose metabolism pathway impaired in the NCLs may open new avenues for evaluating the therapeutic potential of anti-diabetic agents in this population and thus raise the prospect of a therapeutic approach able to delay or even halt disease progression.

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来源期刊
CiteScore
7.90
自引率
3.80%
发文量
627
审稿时长
6-12 weeks
期刊介绍: Frontiers in Cellular Neuroscience is a leading journal in its field, publishing rigorously peer-reviewed research that advances our understanding of the cellular mechanisms underlying cell function in the nervous system across all species. Specialty Chief Editors Egidio D‘Angelo at the University of Pavia and Christian Hansel at the University of Chicago are supported by an outstanding Editorial Board of international researchers. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide.
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