细胞色素c氧化酶缺乏症(COXD)是一种遗传性疾病,其特征是编码细胞色素c氧化酶蛋白(COX)的基因不存在或突变。COX缺乏导致严重的肌肉无力,心,肝脏,和肾脏疾病,以及婴儿和青少年的脑损伤,在许多情况下导致死亡。没有治愈这种疾病的方法,找到一个有效的,便宜,早期诊断手段对于减少症状和长期残疾至关重要。此外,肌肉活检,传统的检测方法,是侵入性的,贵,而且耗时。这项研究证明了扫描电化学显微镜在活的人成纤维细胞中定量COX活性的适用性。利用氧化还原介体N之间的相互作用,N,N\',N'-四甲基-对-苯二胺,还有COX,通过使用铂微电极监测电流变化并使用数值模型确定表观非均相速率常数k0,成功定量了酶活性。本研究为开发检测婴儿COXD的诊断方法奠定了基础。有可能提高治疗效果和改善受影响个体的生活质量。
Cytochrome c oxidase deficiency (COXD) is an inherited disorder characterized by the absence or mutation in the genes encoding for the cytochrome c oxidase protein (COX). COX deficiency results in severe muscle weakness, heart, liver, and kidney disorders, as well as brain damage in infants and adolescents, leading to death in many cases. With no cure for this disorder, finding an efficient, inexpensive, and early means of diagnosis is essential to minimize symptoms and long-term disabilities. Furthermore, muscle biopsy, the traditional detection method, is invasive, expensive, and time-consuming. This study demonstrates the applicability of scanning electrochemical microscopy to quantify COX activity in living human fibroblast cells. Taking advantage of the interaction between the redox mediator N, N, N\', N\'-tetramethyl-para-phenylene-diamine, and COX, the enzymatic activity was successfully quantified by monitoring current changes using a platinum microelectrode and determining the apparent heterogeneous rate constant k0 using numerical modeling. This study provides a foundation for developing a diagnostic method for detecting COXD in infants, which has the potential to increase treatment effectiveness and improve the quality of life of affected individuals.