Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, DC, USA; Department of Neurology, George Washington University, Washington, DC, USA.
Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, DC, USA; Department of Neurology, George Washington University, Washington, DC, USA.
Neurotherapeutics. 2024 Jan;21(1):e00323. doi: 10.1016/j.neurot.2024.e00323. Epub 2024 Jan 19.
Mitochondrial diseases are inherited disorders that impede the mitochondria's ability to produce sufficient energy for the cells. They can affect different parts of the body, notably the brain. Neurological symptoms and epilepsy are prevalent in patients with mitochondrial disorders. The epileptogenicity of mitochondrial disorder is a complex process involving the intricate interplay between abnormal energy metabolism and neuronal activity. Several modalities have been used to detect seizures in different disorders including mitochondrial disorders. EEG serve as the gold standard for diagnosis and localization, commonly complemented by additional imaging modalities to enhance source localization. In the current work, we propose the use of functional near-infrared spectroscopy (fNIRS) to identify the occurrence of epilepsy and seizure in patients with mitochondrial disorders. fNIRS proves an advantageous imaging technique due to its portability and insensitivity to motion especially for imaging infants and children. It has added a valuable factor to our understanding of energy metabolism and neuronal activity. Its real-time monitoring with high spatial resolution supplements traditional diagnostic tools such as EEG and provides a comprehensive understanding of seizure and epileptogenesis. The utility of fNIRS extends to its ability to detect changes in Cytochrome c oxidase (CcO) which is a crucial enzyme in cellular respiration. This facet enhances our insight into the metabolic dimension of epilepsy related to mitochondrial dysfunction. By providing valuable insights into both energy metabolism and neuronal activity, fNIRS emerges as a promising imaging technique for unveiling the complexities of mitochondrial disorders and their neurological manifestations.
线粒体疾病是一种遗传性疾病，它会阻碍线粒体产生足够细胞能量的能力。它们可以影响身体的不同部位，特别是大脑。患有线粒体疾病的患者普遍存在神经症状和癫痫。线粒体疾病的致痫性是一个复杂的过程，涉及异常能量代谢和神经元活动之间的复杂相互作用。已经使用了几种方式来检测包括线粒体疾病在内的不同疾病中的癫痫发作。脑电图是诊断和定位的金标准，通常通过额外的成像方式来增强源定位。在当前的工作中，我们提出使用功能近红外光谱（fNIRS）来识别线粒体疾病患者癫痫发作的发生。fNIRS 是一种有利的成像技术，因为它具有便携性且不易受到运动的影响，特别适合对婴儿和儿童进行成像。它为我们理解能量代谢和神经元活动增加了一个有价值的因素。其具有高空间分辨率的实时监测补充了脑电图等传统诊断工具，提供了对癫痫发作和致痫性的全面了解。fNIRS 的用途还扩展到检测细胞色素 c 氧化酶（CcO）变化的能力，CcO 是细胞呼吸中的关键酶。这一方面增强了我们对与线粒体功能障碍相关的癫痫代谢方面的认识。通过提供对能量代谢和神经元活动的有价值的见解，fNIRS 作为一种有前途的成像技术，揭示了线粒体疾病及其神经表现的复杂性。
