Rahimi Golbarg, Silverman Mackenzie, Lucas Maeve, Kazerooni Lilia, Yousuf Mariam M, Jafarpour Saba, Santoro Jonathan D
Keck School of Medicine of the University of Southern California, Los Angeles, CA, United States.
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA, United States.
Front Neurol. 2025 Feb 18;16:1538358. doi: 10.3389/fneur.2025.1538358. eCollection 2025.
Although Multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) have distinct pathophysiological mechanisms, they are both neurodegenerative conditions that involve mitochondrial dysfunction. MS is an autoimmune disease that is characterized by demyelination and neuroinflammation; and LHON is a mitochondrial disorder predominantly affecting the optic nerves, resulting in severe vision loss. Recent studies have highlighted the coexistence of these two conditions, particularly in females, suggesting that mitochondrial variants in LHON may predispose individuals to develop MS or affect its progression. Similar to MS, LHON-MS presents with visual impairment, neurological deficits, white matter lesions, and brain atrophy, which further supports a shared underlying pathophysiology. While MS is not inherently a mitochondrial disorder, its neuroinflammatory processes can lead to mitochondrial dysfunction. Reciprocally, mitochondrial impairment may be exacerbated in LHON-MS. Therefore, the role of mitochondrial dysfunction in these diseases is central, with impaired mitochondrial function contributing to cellular damage and neuroinflammation. This review explores the intersections of MS and LHON, emphasizing the need for further research to better understand mitochondrial dysfunction in these disorders.
尽管多发性硬化症（MS）和莱伯遗传性视神经病变（LHON）具有不同的病理生理机制，但它们都是涉及线粒体功能障碍的神经退行性疾病。MS是一种自身免疫性疾病，其特征是脱髓鞘和神经炎症；而LHON是一种主要影响视神经的线粒体疾病，会导致严重的视力丧失。最近的研究强调了这两种疾病的共存，尤其是在女性中，这表明LHON中的线粒体变异可能使个体易患MS或影响其病程。与MS相似，LHON-MS也表现为视力障碍、神经功能缺损、白质病变和脑萎缩，这进一步支持了共同的潜在病理生理学。虽然MS本质上不是线粒体疾病，但其神经炎症过程可导致线粒体功能障碍。相反，LHON-MS中的线粒体损伤可能会加剧。因此，线粒体功能障碍在这些疾病中起着核心作用，线粒体功能受损会导致细胞损伤和神经炎症。本综述探讨了MS和LHON的交叉点，强调需要进一步研究以更好地理解这些疾病中的线粒体功能障碍。
