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

• Published in: Metabolites Vol. 13; no. 1; p. 46
• Main Authors: Zanotti, Simona, Velardo, Daniele, Sciacco, Monica
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 28.12.2022; MDPI
• Subjects: Acidosis; antioxidants; Brief Report; Central nervous system; Energy requirements; Head injuries; Lactic acidosis; MELAS; MELAS syndrome; Mitochondria; Mitochondrial DNA; Mutation; Neurodegeneration; oxidative stress; Parkinson's disease; Stroke-like episodes; TBI; Traumatic brain injury; TBI; MELAS; antioxidants; mitochondria; oxidative stress
• ISSN: 2218-1989; 2218-1989
• DOI: 10.3390/metabo13010046

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.