Cytochrome c oxidase deficiency detection in human fibroblasts using scanning electrochemical microscopy.

ABSTRACT: 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 betwe

SUBMITTER: Thind S 

PROVIDER: S-EPMC10769844 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature