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创伤性脑损伤引发一名轻度症状性线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)患者的神经退行性变:对受损线粒体在普通人群头部创伤后遗症决定中有害作用的启示。

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population.

作者信息

Zanotti Simona, Velardo Daniele, Sciacco Monica

机构信息

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.

出版信息

Metabolites. 2022 Dec 28;13(1):46. doi: 10.3390/metabo13010046.

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system (CNS). We present the case of a man affected with an oligosymptomatic, genetically determined MELAS syndrome, whose clinical picture dramatically and irreversibly worsened following a mild head injury. We hypothesize that the CNS metabolic stress induced by the brain injury activated an irreversible cascade of events leading to progressive neurodegeneration because damaged mitochondria were unable to restore the balance between energy requirements and availability.

摘要

线粒体脑肌病伴乳酸酸中毒及卒中样发作(MELAS)综合征是一种母系遗传的线粒体基因疾病,通常在生命的前二十年发病,主要累及中枢神经系统(CNS)。我们报告了一例患有症状轻微、基因决定的MELAS综合征的男性病例,其在轻度头部受伤后临床症状急剧且不可逆地恶化。我们推测,脑损伤引起的中枢神经系统代谢应激激活了一系列不可逆的事件,导致进行性神经退行性变,因为受损的线粒体无法恢复能量需求与供应之间的平衡。

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